Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dcc MGI:94869

Gene Summary

Name:

deleted in colorectal carcinoma

Synonyms:

C030036D22Rik, Igdcc1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased neutrophil cell number		Dcc^{tm1b(NCOM)Mfgc}	HET		Early adult	5.11×10^-05
preweaning lethality, complete penetrance		Dcc^{tm1b(NCOM)Mfgc}	HOM		Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Brain	N/A	heterozygote	40% (2 of 5)
Brain	N/A	homozygote	Ambiguous
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Ear	N/A	heterozygote	0.0% (0 of 5)
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	100% (5 of 5)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	40% (2 of 5)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	0.0% (0 of 5)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	40% (2 of 5)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	40% (2 of 5)
Forelimb	N/A	homozygote	Ambiguous
Gut	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Handplate	N/A	heterozygote	0.0% (0 of 5)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	0.0% (0 of 5)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	0.0% (0 of 5)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	40% (2 of 5)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	40% (2 of 5)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	0.0% (0 of 5)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	0.0% (0 of 5)
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	0.0% (0 of 5)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	0.0% (0 of 5)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	40% (2 of 5)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Oral cavity	N/A	heterozygote	0.0% (0 of 5)
Oral cavity	N/A	homozygote	Ambiguous
Chorioallantoic placenta	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Skeleton	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Skin	N/A	heterozygote	0.0% (0 of 5)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Tail somite	N/A	heterozygote	40% (2 of 5)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	0.0% (0 of 5)
Tail	N/A	homozygote	Ambiguous
Trachea	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Urinary system	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	1.56% (1 of 64)
brain	1.17% (6 of 511)
central nervous system ganglion	1.37% (1 of 73)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
gut	1.69% (1 of 59)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
placenta	16.67% (7 of 42)
skeleton	1.28% (1 of 78)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)
trachea	1.69% (1 of 59)
urinary system	1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Embryo LacZ

LacZ images wholemount

24 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

Eye Morphology

Images Ophthalmoscopy

7 Images

View images

Human diseases caused by Dcc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dcc (7 diseases)
Human diseases predicted to be associated with Dcc (1654 diseases)

The table below shows human diseases associated to Dcc by orthology or direct annotation.

Disease	Matching phenotypes	Source
Familial Congenital Mirror Movements	Poor fine motor coordination, Cerebral palsy, Clumsiness, Morphological abnormality of the cortic...	ORPHA:238722
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Unsteady gait, Agene...	OMIM:617542
Colorectal Cancer	Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom...	OMIM:114500
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Kallmann Syndrome	Tremor, Paraplegia, Gait disturbance, Ataxia	ORPHA:478
Horizontal Gaze Palsy With Progressive Scoliosis		ORPHA:2744

The table below shows human diseases predicted to be associated to Dcc by phenotypic similarity.

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Leber Hereditary Optic Neuropathy, Modifier Of	Leber optic atrophy, Optic atrophy	OMIM:308905
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:613830
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Autosomal Recessive Spastic Paraplegia Type 67	Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic gait, Babinski sign, Aplasia/H...	ORPHA:401820
Retinitis Pigmentosa 42	Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu...	OMIM:612943
Schizencephaly	Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	OMIM:269160
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Gerstmann-Straussler-Scheinker Syndrome	Gait ataxia, Limb myoclonus, Paresthesia, Abnormal cerebellum morphology, Abnormality of extrapyr...	ORPHA:356
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Spinocerebellar Ataxia 13	Gait ataxia, Spasticity, Impaired distal vibration sensation, Abnormal pyramidal sign, Myoclonus,...	OMIM:605259
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Hypoplasia of the brainstem, Cerebellar hypoplasia, Hemiparesis, Polymicrogyria, Lissencephaly, P...	OMIM:610031
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Spasticity, Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion o...	OMIM:614039
Spinocerebellar Ataxia 23	Gait ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Lim...	OMIM:610245
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Familial Congenital Mirror Movements	Poor fine motor coordination, Cerebral palsy, Clumsiness, Morphological abnormality of the cortic...	ORPHA:238722
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr...	OMIM:187950
Adult Krabbe Disease	Somatic sensory dysfunction, Progressive spastic paraparesis, Upper motor neuron dysfunction, Bab...	ORPHA:206448
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hypoplasia of the brainstem, Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia, Ataxi...	OMIM:618174
Autosomal Recessive Spastic Paraplegia Type 69	Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic dysarthria, Hand tremor, Aplas...	ORPHA:401830
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Bardet-Biedl Syndrome 13	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:615990
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly...	OMIM:615771
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:620102
Choroideremia	Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig...	OMIM:303100
Dystonia 9	Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Morph...	OMIM:601042
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua...	OMIM:180210
Spinocerebellar Ataxia 8	Spasticity, Abnormal pyramidal sign, Incoordination, Morphological abnormality of the pyramidal t...	OMIM:608768
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Autosomal Recessive Spastic Paraplegia Type 32	Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Cerebellar corti...	ORPHA:171622
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Leukoencephalopathy, Tip-toe gait, Abnormal brainstem MRI signal intensity, Gait disturbance, Spa...	ORPHA:83629
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A...	ORPHA:86841
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo...	OMIM:608051
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:606068
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corpus callos...	OMIM:604213
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Immunodeficiency 27A	Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leuk...	OMIM:209950
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Primary microcephaly, Cerebellar hypoplasia, Respiratory distress, Agenesis of corpus callosum, P...	ORPHA:171703
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Retinitis Pigmentosa 39	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:613809
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Lissencephaly 3	Hypoplasia of the brainstem, Spastic tetraplegia, Agyria, Polymicrogyria, Lissencephaly, Ataxia, ...	OMIM:611603
Erythrocytosis, Familial, 4	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:611783
Spastic Paraplegia 2, X-Linked	Abnormal cerebellum morphology, Spastic gait, Spastic paraplegia, Babinski sign, Dysmetria, Loss ...	OMIM:312920
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Reticular Dystrophy Of Retinal Pigment Epithelium	Pigmentary retinopathy, Abnormality of retinal pigmentation	OMIM:179840
Spinocerebellar Ataxia 10	Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Abnormality of extrapyramidal motor fun...	OMIM:603516
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Erythrocytosis, Familial, 5	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617907
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Lissencephaly 4	Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Babinski si...	OMIM:614019
L-2-Hydroxyglutaric Aciduria	Leukoencephalopathy, Global brain atrophy, Abnormal pyramidal sign, Abnormality of extrapyramidal...	OMIM:236792
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Huntington Disease-Like 3	Chorea, Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Fronta...	OMIM:604802
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund...	OMIM:616689
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Parkinsonism, Rigidity, Morphological abnormality of the pyramidal tract...	OMIM:260540
Retinitis Pigmentosa 76	Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen...	OMIM:617123
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy	OMIM:615268
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babinski sign, Intention tremor, Dys...	ORPHA:453521
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ...	ORPHA:3202
Retinitis Pigmentosa 87 With Choroidal Involvement	Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ...	OMIM:618697
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol...	ORPHA:232
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,...	ORPHA:59181
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia	OMIM:604416
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Spasticity, Hypoplasia of the brainstem, Inability to walk, Simplified gyral pattern, Microcephal...	OMIM:618492
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Attenuation of retinal blood vessels, Optic atrophy	OMIM:165510
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Central Areolar Choroidal Dystrophy	Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin...	ORPHA:75377
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Optic Atrophy 5	Optic atrophy	OMIM:610708
Sub-Cortical Nodular Heterotopia	Spasticity, Abnormal cerebral cortex morphology, Hypoplasia of the corpus callosum, Abnormal basa...	ORPHA:101029
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop...	OMIM:619281
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Masa Syndrome	Hemiplegia/hemiparesis, Gait disturbance, Agenesis of corpus callosum, Spastic paraplegia	ORPHA:2466
Dystonia 16	Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Gait disturbance, Morphologi...	OMIM:612067
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Familial Drusen	Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ...	ORPHA:75376
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Spinocerebellar Ataxia 41	Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait	OMIM:616410
Hydrocephalus, Congenital, X-Linked	Spasticity, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Spastic paraplegi...	OMIM:307000
X-Linked Neurodegenerative Syndrome, Bertini Type	Ataxia, Agenesis of corpus callosum	ORPHA:85334
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Lissencephaly, X-Linked, 1	Spasticity, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis of corpus callosum	OMIM:300067
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Primary Myelofibrosis	Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc...	ORPHA:824
Corpus Callosum, Partial Agenesis Of, X-Linked	Spasticity, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial ...	OMIM:304100
Spastic Paralysis, Infantile-Onset Ascending	Spastic tetraplegia, Babinski sign, Spastic paraplegia, Abnormal lower motor neuron morphology, M...	OMIM:607225
Autosomal Spastic Paraplegia Type 30	Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,...	ORPHA:101010
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt...	OMIM:617780
Retinitis Pigmentosa 54	Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:613428
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Cone-Rod Dystrophy 5	Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy	OMIM:600977
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Familial Adenomatous Polyposis 3	Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell...	OMIM:616415
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Cavum septum pellucidum, Abnormal brainstem morphology, Lateral ventr...	ORPHA:300573
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Periventricular cysts, Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic dip...	ORPHA:255182
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Retinitis Pigmentosa 61	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:614180
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Muir-Torre Syndrome	Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit...	OMIM:158320
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cerebellar Ataxia, Cayman Type	Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor, Nonprogre...	ORPHA:94122
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Spinocerebellar Ataxia, Autosomal Recessive 22	Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Hypoplasia of the corpus callosum, Lo...	OMIM:616948
Retinitis Pigmentosa 71	Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h...	OMIM:616394
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:613801
Cerebellar Ataxia, Cayman Type	Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor	OMIM:601238
Tempi Syndrome	Increased hematocrit, Ascites, Increased circulating IgG level, Polycythemia	ORPHA:284227
Spastic Paraplegia 6, Autosomal Dominant	Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,...	OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant	Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,...	OMIM:182600
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Developmental And Epileptic Encephalopathy 88	Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Partial agenesis of the corpus cal...	OMIM:618959
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:615725
Amyotrophic Lateral Sclerosis 8	Abnormal pyramidal sign, Postural tremor, Morphological abnormality of the pyramidal tract, Loss ...	OMIM:608627
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Spastic tetraplegia, Cerebellar hypoplasia, Simplified gyral pattern...	OMIM:619302
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Cortical dy...	OMIM:608716
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Unsteady gait, Agene...	OMIM:617542
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid...	ORPHA:157794
Leber Congenital Amaurosis 19	Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:618513
Spinocerebellar Ataxia 40	Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys...	OMIM:616053
Specific Granule Deficiency 1	Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac...	OMIM:245480
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Morphological abnormality of the pyramid...	OMIM:613135
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy	ORPHA:75373
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed...	OMIM:615285
Autosomal Dominant Spastic Paraplegia Type 8	Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Up...	ORPHA:100989
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen...	OMIM:133180
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Spastic Paraplegia 11, Autosomal Recessive	Impaired vibration sensation in the lower limbs, Abnormal periventricular white matter morphology...	OMIM:604360
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He...	OMIM:614034
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Microcephaly 17, Primary, Autosomal Recessive	Spasticity, Hypoplasia of the brainstem, Primary microcephaly, Cerebellar hypoplasia, Simplified ...	OMIM:617090
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam...	ORPHA:454840
Retinitis Pigmentosa 17	Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:600852
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Simplified gyral pattern, Myoclonus, Frequent falls, Action myoclonus, Agenesis of c...	OMIM:616540
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Aplasia/Hypoplasia of the pyramidal tract, Microcephaly, Abnormal cortical gyration, Polymicrogyria	OMIM:619602
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Erythrocytosis, Familial, 2	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:263400
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Spastic Paraplegia 7, Autosomal Recessive	Gait ataxia, Impaired vibration sensation in the lower limbs, Cerebral cortical atrophy, Spastic ...	OMIM:607259
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Masa Syndrome	Shuffling gait, Hydrocephalus, Spastic paraplegia, Paraplegia, Microcephaly, Lower limb spasticit...	OMIM:303350
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Spastic Paraplegia 8, Autosomal Dominant	Impaired vibration sensation in the lower limbs, Spastic gait, Upper limb spasticity, Babinski si...	OMIM:603563
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re...	ORPHA:247798
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the brainstem, Spastic tetraplegia, Cerebellar hypoplasia, Simplified gyral pattern...	OMIM:619301
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Inability to walk, Appendicular spasticity, Periventricular leukomalacia, Cerebellar atrophy, Age...	OMIM:618324
Retinitis Pigmentosa 4	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:613731
Spinocerebellar Ataxia, Autosomal Recessive 25	Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria	OMIM:617584
Autosomal Dominant Spastic Paraplegia Type 73	Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Progressive spas...	ORPHA:444099
Retinitis Pigmentosa 84	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:618220
Abcd Syndrome	Polycythemia	OMIM:600501
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Myasthenic Syndrome, Congenital, 23, Presynaptic	Frequent falls, Agenesis of corpus callosum	OMIM:618197
Neurodegeneration With Brain Iron Accumulation 2A	Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Morphological abnormality of the pyramidal ...	OMIM:256600
Bothnia Retinal Dystrophy	Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ...	ORPHA:85128
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Periventricular leukom...	ORPHA:255138
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ...	OMIM:607483
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly	OMIM:606445
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Retinitis Pigmentosa 90	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:619007
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Retinitis Pigmentosa 80	Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617781
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal pyramidal sign, Abnormal cerebellum morphology, Lateral ventricle dilatation, Spastic pa...	OMIM:256850
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Spinocerebellar Ataxia 37	Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait	OMIM:615945
Hypermanganesemia With Dystonia 1	Cirrhosis, Polycythemia, Hepatomegaly	OMIM:613280
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Autosomal Dominant Spastic Paraplegia Type 19	Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Li...	ORPHA:100999
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Global brain atrophy, Spasticity, Inability to walk, Tongue fasciculations, Ataxia, Hypoplasia of...	OMIM:618276
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Ataxia	OMIM:551500
Central Retinal Vein Occlusion	Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne...	ORPHA:411527
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As...	ORPHA:247806
Autosomal Dominant Spastic Paraplegia Type 37	Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Spastic gait, Ba...	ORPHA:171612
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 46	Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:612572
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Autosomal Dominant Spastic Paraplegia Type 42	Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Spastic gait, Ba...	ORPHA:171863
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl...	OMIM:619652
Polymerase Proofreading-Related Adenomatous Polyposis	Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai...	ORPHA:447877
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, ...	ORPHA:250972
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment...	OMIM:251270
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Respiratory distress, Lissencephaly, Abnormal mucociliary clearance, Hypoplasia o...	OMIM:619466
Autoimmune Hemolytic Anemia, Cold Type	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia	ORPHA:228312
Retinitis Pigmentosa 1	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180100
Mismatch Repair Cancer Syndrome 1	Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ...	OMIM:276300
Amyotrophic Lateral Sclerosis 1	Spasticity, Degeneration of anterior horn cells, Pseudobulbar paralysis, Amyotrophic lateral scle...	OMIM:105400
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia...	OMIM:614470
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Retinitis Pigmentosa 49	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613756
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Pontocerebellar Hypoplasia, Type 11	Spasticity, Inability to walk, Cerebellar hypoplasia, Poor coordination, Limb ataxia, Ataxia, Hyp...	OMIM:617695
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor	OMIM:609021
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Night Blindness, Congenital Stationary, Type 1G	Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor	OMIM:616389
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Stargardt Disease	Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi...	ORPHA:827
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t...	ORPHA:98769
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis	OMIM:269600
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Agenesis of corpus callosum, Cerebral atrophy, Death in infancy	OMIM:600329
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti...	OMIM:613908
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Retinitis Pigmentosa 6	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312612
Dandy-Walker Syndrome	Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy	OMIM:619389
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv...	OMIM:617514
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev...	ORPHA:2585
Spinocerebellar Ataxia Type 40	Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella...	ORPHA:423275
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Spasticity, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ag...	ORPHA:171680
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,...	OMIM:603552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Respiratory insufficiency, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplas...	OMIM:613153
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Spinocerebellar Ataxia 38	Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat...	OMIM:615957
Retinitis Pigmentosa 12	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:600105
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
Leber Congenital Amaurosis 2	Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ...	OMIM:204100
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Cone-Rod Dystrophy 17	Optic disc pallor, Cone/cone-rod dystrophy	OMIM:615163
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Usher Syndrome, Type Iv	Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc...	OMIM:618144
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell...	OMIM:218670
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Familial Adenomatous Polyposis 1	Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort...	OMIM:175100
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t...	ORPHA:314978
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t...	ORPHA:220460
Spastic Paraplegia 45, Autosomal Recessive	Spastic gait, Babinski sign, Spastic paraplegia, Lower limb spasticity, Hypoplasia of the corpus ...	OMIM:613162
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Hypoplasia of the corpus callosum, Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus ...	ORPHA:166024
Spinocerebellar Ataxia Type 12	Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe...	ORPHA:98762
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia...	ORPHA:363710
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:607616
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:616570
Glycine Encephalopathy	Hyperactivity, Death in infancy, Impulsivity, Restlessness, Agenesis of corpus callosum	OMIM:605899
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Spasticity, Primary micro...	OMIM:615095
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Decreased circulating antibody level, Thrombocytosis, Hepatomegaly, Iron deficiency anemi...	OMIM:226300
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune...	OMIM:619220
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Lichtenstein-Knorr Syndrome	Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy	OMIM:616291
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e...	ORPHA:41751
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin...	ORPHA:79501
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Fasciculations, Parkinsonism, Apraxia, Neuronal loss in the cerebral cortex...	ORPHA:275872
Poems Syndrome	Increased circulating antibody level, Polycythemia, Lymphadenopathy, Thrombocytosis, Visceromegal...	ORPHA:2905
Microcephaly 16, Primary, Autosomal Recessive	Spasticity, Spastic tetraplegia, Primary microcephaly, Simplified gyral pattern, Agenesis of corp...	OMIM:616681
Mast Syndrome	Dysdiadochokinesis, Apraxia, Thin corpus callosum, Gait disturbance, Incoordination, Spastic para...	OMIM:248900
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal...	ORPHA:100024
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Spasticity, Aqueductal stenosis, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Absent...	ORPHA:2182
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg...	ORPHA:846
Retinitis Pigmentosa 70	Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess...	OMIM:615922
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple...	OMIM:613101
Spastic Paraplegia 48, Autosomal Recessive	Tip-toe gait, Spastic gait, Hyperintensity of cerebral white matter on MRI, Parkinsonism, Thin co...	OMIM:613647
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu...	OMIM:304020
Band Heterotopia	Spasticity, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopia, Agenesis o...	OMIM:600348
Retinitis Pigmentosa 26	Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:608380
Retinitis Pigmentosa 50	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt...	OMIM:613194
Retinitis Pigmentosa 38	Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
Macrocephaly, Acquired, With Impaired Intellectual Development	Thin corpus callosum, Impulsivity, Attention deficit hyperactivity disorder, Probst bundles, Agen...	OMIM:618286
Cyanosis, Transient Neonatal	Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia	OMIM:613977
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr...	ORPHA:1528
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	ORPHA:33574
Spastic Paraplegia 4, Autosomal Dominant	Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,...	OMIM:182601
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Perianal abscess	OMIM:619437
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Microhydranencephaly	Hypoplasia of the brainstem, Spastic tetraplegia, Cerebellar hypoplasia, Hydranencephaly, Microce...	OMIM:605013
Spinocerebellar Ataxia 11	Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel...	OMIM:604432
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Optic Atrophy 6	Optic atrophy	OMIM:258500
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	ORPHA:85179
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:610539
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo...	OMIM:615934
Dihydropyrimidinase Deficiency	Abnormal cerebral white matter morphology, Morphological abnormality of the pyramidal tract, Extr...	OMIM:222748
Familial Adenomatous Polyposis	Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom...	ORPHA:733
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Achromatopsia	Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl...	ORPHA:49382
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Aicardi-Goutieres Syndrome 1	Leukoencephalopathy, Spasticity, Inability to walk, Abnormality of extrapyramidal motor function,...	OMIM:225750
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Fumarase Deficiency	Polycythemia, Cholestasis	OMIM:606812
Livedoid Vasculopathy	Leukocytosis, Anemia, Polycythemia, Pancytopenia	ORPHA:542643
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level...	OMIM:615513
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Fetal Akinesia Syndrome, X-Linked	Arrhinencephaly, Stillbirth, Agenesis of corpus callosum	OMIM:300073
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615010
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu...	OMIM:155100
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Autosomal Dominant Spastic Paraplegia Type 41	Degeneration of the lateral corticospinal tracts, Progressive spastic paraplegia, Lower limb spas...	ORPHA:320355
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly	ORPHA:100025
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,...	OMIM:243150
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Leber Congenital Amaurosis 8	Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul...	OMIM:613835
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Tetraplegia, Hypertonia, Agenesis of corpus callosum	OMIM:274270
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly, Dysphagia	OMIM:619025
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Dysmetria, Loss of ambulation, Tremor, Cerebellar atrophy, Unsteady gait	OMIM:617917
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Jaundice, Polycythemia, Micronodular cirrhosis, Hepatomegaly, Portal hy...	ORPHA:309854
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Poor fine motor coordination, Spastic tetraplegia, Ataxia, Spastic paraplegia, Poor gross motor c...	OMIM:245349
Narp Syndrome	Cerebral cortical atrophy, Progressive gait ataxia, Myoclonic spasms, Ataxia, Babinski sign, Abno...	ORPHA:644
Autosomal Dominant Spastic Paraplegia Type 12	Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Li...	ORPHA:100993
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat...	OMIM:616108
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	OMIM:601859
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ...	OMIM:616171
Glutathionuria	Dysdiadochokinesis, Tremor, Action tremor, Agenesis of corpus callosum	OMIM:231950
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Leukocyt...	OMIM:612840
Chiari Malformation Type Ii	Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelo...	OMIM:207950
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell...	OMIM:300853
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Cerebellar hypoplasia, Central sleep apnea, Cerebral hypoplasia, Neuronal lo...	ORPHA:168486
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Oliver-Mcfarlane Syndrome	Retinal degeneration, Peripheral axonal neuropathy, Pigmentary retinopathy, Central heterochromia	OMIM:275400
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric pol...	OMIM:174900
Retinitis Pigmentosa 77	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617304
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hepatomegaly, Splenomegaly	ORPHA:37748
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, ...	OMIM:226990
Usmani-Riazuddin Syndrome, Autosomal Recessive	Spasticity, Agenesis of corpus callosum	OMIM:619548
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Spinocerebellar Ataxia, Autosomal Recessive 17	Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ...	OMIM:616127
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615085
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Immunodeficiency 64 With Lymphoproliferation	Defective T cell proliferation, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly,...	OMIM:618534
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro...	ORPHA:79435
Hepatocellular Carcinoma	Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Polycythemia, Thromb...	ORPHA:88673
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly	OMIM:269840
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Limb hypertonia, Primary microcephaly, Microcephaly, Hypertonia, Nonprogressive cerebellar ataxia...	ORPHA:466688
Coach Syndrome 2	Molar tooth sign on MRI, Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum, Cerebell...	OMIM:619111
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:612948
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Inability to walk, Parkinsonism, Apraxia, Thin corpus callosum, Choreoathetosis, Spas...	OMIM:619653
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Death in infancy	OMIM:254120
Birdshot Chorioretinopathy	Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular...	ORPHA:179
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9	Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:262767
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opt...	OMIM:600132
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane...	ORPHA:98826
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Retinitis Pigmentosa 45	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:613767
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Dysphagi...	OMIM:619751
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Gait ataxia, Spasticity, Abnormal pyramidal sign, Abnormal cerebellum morphology, Progressive cer...	ORPHA:98
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Retinitis Pigmentosa 83	Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina...	OMIM:618173
Polymicrogyria, Bilateral Frontoparietal	Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ankle clonus, Cerebellar hypoplasia, Tru...	OMIM:606854
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Peripheral axonal neuropathy, Pigmentary retinopathy	OMIM:619090
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Microcephaly, Frontal cortical atrophy, Death in childhood, Parietal cortical a...	OMIM:618766
Spinocerebellar Ataxia 7	Macular degeneration, Pigmentary retinopathy, Optic atrophy	OMIM:164500
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Bone Marrow Failure Syndrome 2	Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity	OMIM:615715
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Irvan Syndrome	Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ...	ORPHA:209943
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Abnormal pyramidal sign, Lissencephaly, Optic nerve hypoplasia, Microcephaly, Cerebel...	OMIM:614833
Arnold-Chiari Malformation Type Ii	Meningocele, Somatic sensory dysfunction, Spasticity, Myelomeningocele, Aqueductal stenosis, Agen...	ORPHA:1136
Von Hippel-Lindau Syndrome	Pancreatic cysts, Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia	OMIM:193300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymph...	OMIM:615688
Autosomal Dominant Spastic Paraplegia Type 38	Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Frontotemporal c...	ORPHA:171617
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Ataxia, P...	OMIM:616819
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Spasticity, Cerebral cortical atrophy, Microcephaly, Tetraplegia, Agenesis of corpus callosum	ORPHA:2508
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia gliosis, Inability to walk, Lateral ventricle dilatation, Basal ganglia necrosis, C...	ORPHA:79243
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Reticular Dysgenesis	Leukopenia, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Abnor...	ORPHA:33355
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol...	OMIM:235700
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	OMIM:617127
Retinitis Pigmentosa 2	Rod-cone dystrophy, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Pigmentar...	OMIM:312600
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re...	OMIM:605549
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:204000
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly	OMIM:618892
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Congenital Muscular Dystrophy With Cerebellar Involvement	Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno...	ORPHA:370959
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait	ORPHA:284271
Hemochromatosis, Type 2B	Hepatic fibrosis, Anemia, Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:613313
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spasticity, Spastic tetraplegia, Choreoathetosis, Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Osteopetrosis, Autosomal Recessive 4	Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:611490
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis...	OMIM:300908
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc...	OMIM:619041
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Myoclonus, Ataxia, Dysmetria, Head titubation, Agenesis of corpus callosum	OMIM:250620
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem...	OMIM:266200
Foxg1 Syndrome	Spasticity, Inability to walk, Hyperkinetic movements, Myoclonus, Choreoathetosis, Progressive mi...	ORPHA:561854
Retinitis Pigmentosa 66	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615233
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Cerebellar hypoplasia, Agyria, Lissencephaly, Microcephaly, Neonatal death, Age...	OMIM:616342
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto...	ORPHA:507
Joubert Syndrome 25	Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Lissencephaly 6 With Microcephaly	Spasticity, Limb hypertonia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial...	OMIM:616212
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Akinesia, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydroc...	OMIM:225790
Lissencephaly Syndrome, Norman-Roberts Type	Primary microcephaly, 4-layered lissencephaly, Respiratory distress, Cerebral calcification, Micr...	ORPHA:89844
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly	ORPHA:158029
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Usher Syndrome, Type 1M	Optic disc pallor, Drusen	OMIM:618632
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Spina bifida o...	OMIM:618736
Lymphoproliferative Syndrome, X-Linked, 1	Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ...	OMIM:308240
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Agenesis of corpus callosum	OMIM:225040
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,...	OMIM:619824
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation	ORPHA:2196
Recurrent Respiratory Papillomatosis	Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Upper air...	ORPHA:60032
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:254210
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co...	OMIM:615234
Familial Isolated Dilated Cardiomyopathy	Abnormality of neutrophils	ORPHA:154
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal dystrophy, Optic disc pallor	OMIM:616079
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Microcephaly, Amish Type	Limb hypertonia, Cerebellar hypoplasia, Primary microcephaly, Myoclonus, Partial agenesis of the ...	OMIM:607196
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen...	OMIM:613011
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Leukocytosis	OMIM:611762
Spinocerebellar Ataxia 29	Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca...	OMIM:117360
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M...	OMIM:145350
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen...	OMIM:615387
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Warburg Micro Syndrome 1	Perisylvian polymicrogyria, Spastic diplegia, Cerebellar hypoplasia, Microcephaly, Cerebral atrop...	OMIM:600118
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
Delpire-Mcneill Syndrome	Spasticity, Cortical dysplasia, Agenesis of corpus callosum, Hypertonia	OMIM:619083
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Reduced cerebral white matter volume, Cerebral hypoplasia, Respiratory distress, Microcephaly, Hy...	OMIM:617977
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Aicardi-Goutieres Syndrome 4	Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:610333
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr...	OMIM:615559
Isolated Agammaglobulinemia	Anemia, Abnormality of the lymphatic system, Abnormality of neutrophils, Recurrent cutaneous absc...	ORPHA:229717
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Ap...	OMIM:300635
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Thin corpus callosum, Partial ...	OMIM:619517
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Elevated proportion of CD4-negativ...	OMIM:603909
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat...	OMIM:618213
Peroxisomal Acyl-Coa Oxidase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy	OMIM:264470
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly, Hepatomegaly	OMIM:618107
Interstitial Lung And Liver Disease	Anemia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Thrombocytosis, Hepatomegaly, Cholestasis	OMIM:615486
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m...	ORPHA:98848
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Tyrosinemia Type 1	Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Beta-Thalassemia	Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg...	ORPHA:848
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Corpus Callosum Agenesis-Neuronopathy Syndrome	Hemiplegia/hemiparesis, Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly	OMIM:231000
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli...	ORPHA:3226
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci...	OMIM:618495
Babesiosis	Leukopenia, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:108
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Cerebral cortical atrophy, Hyperintensity of cerebral white matter on MRI, Primary mi...	ORPHA:500144
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hepatomegaly	ORPHA:134
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,...	OMIM:619802
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter...	OMIM:613470
Friedreich Ataxia 2	Incoordination, Ataxia, Babinski sign, Morphological abnormality of the pyramidal tract, Impaired...	OMIM:601992
Spinocerebellar Ataxia Type 17	Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Torticollis, ...	ORPHA:98759
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant...	OMIM:607594
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund...	OMIM:194380
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o...	OMIM:607271
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Anemia, Jaundice, Acute pancreatitis, Thrombocytosis, Leukocytosis, Hepatomegaly, Lip...	ORPHA:20
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy...	ORPHA:324636
Hypertriglyceridemia, Transient Infantile	Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly	OMIM:614480
Cogan Syndrome	Anemia, Thrombocytosis, Leukocytosis	ORPHA:1467
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen...	ORPHA:364055
Perching Syndrome	Respiratory distress, Dysphagia	OMIM:617055
Bronchopulmonary Dysplasia	Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,...	ORPHA:70589
Pyruvate Dehydrogenase E1-Alpha Deficiency	Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Basal ganglia cysts, Microcephaly, Cerebral ...	OMIM:312170
Joubert Syndrome 23	Apnea, Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea	OMIM:616490
Idiopathic Hypereosinophilic Syndrome	Anemia, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Portal fibrosis, Hepatosplenomeg...	ORPHA:3260
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis	ORPHA:98827
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
Holoprosencephaly 11	Holoprosencephaly, Microcephaly, Agenesis of corpus callosum	OMIM:614226
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Subependymal Nodular Heterotopia	Meningocele, Limb myoclonus, Myelomeningocele, Partial agenesis of the corpus callosum, Acropares...	ORPHA:101030
Cinca Syndrome	Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia	OMIM:607115
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia	OMIM:246000
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:300029
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte...	OMIM:616278
Senior-Loken Syndrome	Retinal dystrophy, Abnormality of retinal pigmentation	ORPHA:3156
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Pachygyria, Microcephaly, Agenesis of corpus callosum	ORPHA:2512
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia	OMIM:618398
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons...	OMIM:601775
Syndromic Diarrhea	Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Panhypogammaglobulinemia, Abnormality of t...	ORPHA:84064
Pleural Mesothelioma	Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough, D...	ORPHA:50251
Lymphoproliferative Syndrome 2	Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophag...	OMIM:615122
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly	ORPHA:172
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati...	ORPHA:79432
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory insufficiency, Respiratory distress, Abnormal corpus striatum morphology	ORPHA:238329
Joubert Syndrome With Renal Defect	Encephalocele, Molar tooth sign on MRI, Oculomotor apraxia, Hydrocephalus, Gait disturbance, Poly...	ORPHA:220497
Cone-Rod Dystrophy 10	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly	ORPHA:163596
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ...	ORPHA:158057
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo...	ORPHA:288
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Polycythemia, Impaired ...	ORPHA:2968
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Appendicular spastici...	OMIM:617669
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro...	OMIM:301074
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Meckel Syndrome 13	Molar tooth sign on MRI, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Occipital encephalocele	OMIM:617562
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:100026
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar vermis atrophy, Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy	OMIM:614229
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Specific Granule Deficiency 2	Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia	OMIM:617475
Gaucher Disease Type 2	Abnormal pattern of respiration, Cough, Respiratory distress, Dysphagia	ORPHA:77260
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve...	OMIM:606843
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Th...	OMIM:616050
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology	ORPHA:791
Brucellosis	Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Granuloma, Lung absce...	ORPHA:1304
Griscelli Syndrome	Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils...	ORPHA:381
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly	ORPHA:56425
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice	OMIM:611804
Immunodeficiency 95	Respiratory failure, Respiratory distress, Recurrent viral pneumonia	OMIM:619773
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Splenomegaly, Cholestasis, Hepatomegaly	OMIM:620010
Spinocerebellar Ataxia 44	Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy	OMIM:617691
Congenital Disorder Of Glycosylation, Type Iu	Death in infancy, Cerebellar hypoplasia, Respiratory distress, Secondary microcephaly, Cerebral w...	OMIM:615042
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of...	ORPHA:98850
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly	ORPHA:79477
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ...	OMIM:187800
Myh9-Related Disease	Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p...	ORPHA:182050
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia	OMIM:212750
Wolman Disease	Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly	ORPHA:75233
Sjögren-Larsson Syndrome	Generalized hyperpigmentation, Macular degeneration, Retinopathy, Abnormality of retinal pigmenta...	ORPHA:816
Trichohepatoenteric Syndrome 1	Splenomegaly, Hepatic fibrosis, Cirrhosis, Abnormality of the pancreas, Decreased circulating ant...	OMIM:222470
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Leukoencephalopathy, Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor fun...	OMIM:612199
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Essential Thrombocythemia	Abnormality of thrombocytes, Abnormal platelet morphology, Splenomegaly, Acute leukemia	ORPHA:3318
Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia	ORPHA:98375
Joubert Syndrome 18	Molar tooth sign on MRI, Arrhinencephaly, Occipital encephalocele, Agenesis of cerebellar vermis,...	OMIM:614815
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte...	OMIM:619463
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Pontocerebellar Hypoplasia Type 2	Spasticity, Hypoplasia of the brainstem, Hypoplasia of the ventral pons, Abnormal cortical gyrati...	ORPHA:2524
Colorectal Cancer	Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom...	OMIM:114500
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, ...	OMIM:253800
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I...	OMIM:618394
Retinitis Pigmentosa 51	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Dyspnea, Respiratory distress, Microcephaly	ORPHA:1832
Spinocerebellar Ataxia Type 19/22	Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S...	ORPHA:98772
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Inability to walk, Lateral ventricle dilatation, Primary microcephaly, Oculomotor apraxia, Lissen...	ORPHA:300570
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Liver abscess...	ORPHA:54251
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen...	OMIM:612714
Hepatoportal Sclerosis	Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Juvenile Paget Disease	Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus callosum, Orbita...	OMIM:164180
Chediak-Higashi Syndrome	Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat...	OMIM:214500
Tularemia	Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar...	ORPHA:3392
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal macular morphology, Aganglionic megacolon, White eyelashes, W...	ORPHA:897
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly	ORPHA:2584
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,...	ORPHA:859
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	OMIM:611590
Laryngotracheal Angioma	Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing	ORPHA:137935
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Macrocytic anemia	OMIM:615578
Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:98293
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1390
Spastic Ataxia 3, Autosomal Recessive	Gait ataxia, Leukoencephalopathy, Spasticity, Cerebellar vermis atrophy, Spastic ataxia, Cerebral...	OMIM:611390
Sickle Cell Disease	Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko...	OMIM:603903
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cer...	ORPHA:86822
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Hemolytic anemia, Perianal abscess, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac...	OMIM:618935
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot...	OMIM:614699
Posterior Column Ataxia With Retinitis Pigmentosa	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retin...	OMIM:609033
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Apnea, Neonatal death, Cerebellar hypoplasia	OMIM:615228
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Macular edema, Vitreoretinopathy	OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II...	OMIM:615249
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,...	ORPHA:79301
Hereditary Spherocytosis	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti...	ORPHA:822
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Microcephaly, Ce...	OMIM:616602
Sitosterolemia 1	Stomatocytosis, Anemia, Impaired platelet aggregation, Reticulocytosis, Episodic hemolytic anemia...	OMIM:210250
Cinca Syndrome	Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils,...	ORPHA:1451
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Von Hippel-Lindau Disease	Pancreatic cysts, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Polycythemia	ORPHA:892
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen...	OMIM:139090
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Spasticity, Microcephaly, Agenesis of corpus callosum	OMIM:615286
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Joubert Syndrome With Ocular Defect	Encephalocele, Molar tooth sign on MRI, Oculomotor apraxia, Hydrocephalus, Gait disturbance, Poly...	ORPHA:220493
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Hyperintensity of cerebral white matter on MRI, Cerebellar hypoplasia, Spastic tetrap...	OMIM:618476
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Respiratory distress, Restrictive ventilatory defect, Dysphagia, Respi...	OMIM:614399
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callos...	OMIM:600638
Retinitis Pigmentosa 75	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617023
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Jaundice, Reticulocyt...	OMIM:232800
Retinitis Punctata Albescens	Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular...	ORPHA:52427
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Leukoencephalopathy With Ataxia	Retinoschisis, Choroidal neovascularization, Chorioretinal atrophy, Optic neuropathy	OMIM:615651
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally...	OMIM:602450
Fetal Gaucher Disease	Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Primary microcephaly, Simplified gyral pattern, Partial agenesis of the co...	OMIM:604804
Follicular Lymphoma	Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:545
Severe Acute Respiratory Syndrome	Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati...	ORPHA:140896
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Agenesis of corpus callosum	OMIM:610498
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom...	ORPHA:158061
Spinocerebellar Ataxia, Autosomal Recessive 30	Titubation, Ataxia, Dysmetria, Tremor, Cerebral atrophy, Cerebellar atrophy, Unsteady gait	OMIM:619405
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
Intellectual Developmental Disorder, Autosomal Dominant 36	Gait ataxia, Inability to walk, Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, A...	OMIM:616362
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis	OMIM:300653
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Hepatic steatosis, Thrombocytosis, Decreased circulating IgA level, Hepatomegal...	OMIM:212065
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Omenn Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Abnormal lymphoc...	ORPHA:39041
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell...	OMIM:300835
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617547
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ...	OMIM:608203
Neuroendocrine Neoplasm Of Appendix	Ileal adenocarcinoma, Midgut malrotation, Mechanical ileus, Adenocarcinoma of the colon, Protract...	ORPHA:100079
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia	OMIM:617243
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne...	OMIM:617914
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly	OMIM:619658
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Global brain atrophy, Spasticity, Hypoplasia of the brainstem, Inability to walk, Hyperintensity ...	ORPHA:481152
Congenital Disorder Of Glycosylation, Type Iy	Hypoplasia of the corpus callosum, Respiratory distress, Microcephaly	OMIM:300934
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Pseudo-Torch Syndrome 3	Lymphadenitis, Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Dysplastic Cortical Hyperostosis	Splenomegaly, Hepatomegaly	ORPHA:2204
Spinocerebellar Ataxia, Autosomal Recessive 7	Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,...	OMIM:609270
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation	ORPHA:1433
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Succinic Acidemia	Respiratory distress	OMIM:600335
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th...	OMIM:616100
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Elevated hepatic ...	ORPHA:231222
Neonatal Lupus Erythematosus	Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Pancytopenia, Cholestasis, Hepat...	ORPHA:398124
Congenital Rubella Syndrome	Anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:290
Immunodeficiency With Hyper-Igm, Type 1	Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im...	OMIM:308230
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis	OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly	OMIM:619868
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve...	OMIM:240500
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly	OMIM:269920
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Death in childhood, Respiratory distress, Microcephaly	OMIM:615597
Beckwith-Wiedemann Syndrome	Enlarged kidney, Polycythemia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Exocrine pancreatic i...	ORPHA:116
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Truncal ataxia, Incoordination, Ataxia, Dysmetria, Loss of ambulation,...	OMIM:183086
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o...	OMIM:193220
Lysosomal Acid Lipase Deficiency	Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic...	OMIM:278000
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Diamond-Blackfan Anemia 1	Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea...	OMIM:105650
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Ascites, Prolonged...	OMIM:257200
Cone-Rod Dystrophy 2	Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret...	OMIM:120970
Immunodeficiency 54	Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:609981
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Hydrocephalus, Chiari type I malformation, Agenesis of corpus ...	OMIM:218350
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis	ORPHA:54057
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal adenocarcinoma, Ne...	ORPHA:424016
Adult-Onset Still Disease	Hepatitis, Neutrophilia, Generalized lymphadenopathy, Bone marrow hypocellularity, Leukocytosis, ...	ORPHA:829
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea	OMIM:267450
Pfapa Syndrome	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:42642
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Felty Syndrome	Anemia, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Neutropenia...	ORPHA:47612
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Splenomegaly, Hepatomegaly	OMIM:261750
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Leigh Syndrome With Leukodystrophy	Pigmentary retinopathy, Optic atrophy	ORPHA:255241
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,...	ORPHA:44890
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Gaucher Disease, Type I	Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:230800
Cryptogenic Organizing Pneumonia	Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,...	ORPHA:1302
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Abnormal globus pal...	OMIM:618603
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Spasticity, Partial agenesis of the corpus callosum, Microcephaly, Hypertonia	OMIM:618346
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly	OMIM:214900
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor...	OMIM:618849
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp...	ORPHA:264675
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Gist-Plus Syndrome	Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis	OMIM:175510
Laryngomalacia	Congenital laryngeal stridor, Respiratory distress	OMIM:150280
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum	OMIM:618577
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re...	ORPHA:254875
Ogden Syndrome	Microvesicular hepatic steatosis, Enlarged kidney, Jaundice, Polycythemia, Iron deficiency anemia...	OMIM:300855
Rh Deficiency Syndrome	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma...	ORPHA:71275
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos...	ORPHA:2688
Congenital Disorder Of Glycosylation, Type Iio	Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Cholestatic liver disease, Prolonged neonatal jaundi...	OMIM:616828
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:182230
Gastrointestinal Stromal Tumor	Neurofibromas, Constipation, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor	OMIM:606764
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Imagawa-Matsumoto Syndrome	Agenesis of corpus callosum, Polymicrogyria	OMIM:618786
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Chromosome 3Q13.31 Deletion Syndrome	Attention deficit hyperactivity disorder, Alobar holoprosencephaly, Agenesis of corpus callosum	OMIM:615433
Combined Oxidative Phosphorylation Deficiency 30	Polymicrogyria, Respiratory distress, Death in infancy	OMIM:616974
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytos...	ORPHA:86839
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Cholesteryl Ester Storage Disease	Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly	ORPHA:75234
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Abnormality of B cel...	OMIM:613179
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force...	ORPHA:1303
Chronic Pneumonitis Of Infancy	Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H...	ORPHA:91359
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Spinocerebellar Ataxia Type 8	Gait ataxia, Spasticity, Cerebellar vermis atrophy, Rigidity, Spastic dysarthria, Limb ataxia, At...	ORPHA:98760
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Wilson Disease	Anemia, Cirrhosis, Hepatitis, Jaundice, Hepatic steatosis, Acute hepatitis, Hepatomegaly, Thrombo...	ORPHA:905
Amish Lethal Microcephaly	Limb hypertonia, Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebell...	ORPHA:99742
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Sézary Syndrome	Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte m...	ORPHA:3162
Zika Virus Disease	Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ...	ORPHA:448237
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Respiratory distress, Agenesis of corpus...	ORPHA:990
Thyroid Lymphoma	Respiratory distress, Upper airway obstruction, Dyspnea, Stridor, Dysphagia	ORPHA:97285
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Neuroleptic Malignant Syndrome	Thrombocytopenia, Thrombocytosis, Leukocytosis	ORPHA:94093
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ...	OMIM:165550
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Gaucher Disease Type 1	Leukopenia, Anemia, Cirrhosis, Increased circulating antibody level, Hypersplenism, Pancytopenia,...	ORPHA:77259
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Yellow/white lesions of the retina, Peripheral axonal neuropathy, Pigmentary reti...	ORPHA:100996
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Basal ganglia gliosis, Neuronal loss in basal ganglia, Death in infancy, Irregular respiration, R...	OMIM:604377
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612526
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi...	ORPHA:411703
Cerebrooculofacioskeletal Syndrome 1	Cerebellar hypoplasia, Diffuse cerebral atrophy, Recurrent pneumonia, Microcephaly, Basal ganglia...	OMIM:214150
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Alcoholism, Pleural ef...	ORPHA:36238
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic atrophy, Optic disc pallor	OMIM:268315
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pig...	ORPHA:5
Letterer-Siwe Disease	Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia	OMIM:246400
Meckel Syndrome 12	Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Microcephaly, Agenesis of cerebellar...	OMIM:616258
Neuraminidase Deficiency	Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly	OMIM:256550
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He...	ORPHA:158048
Lissencephaly, X-Linked, 2	Spasticity, Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:300215
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Inability to walk, Tremor, Limb tremor, Diffuse white matter abnormalities, Agenesis of corpus ca...	OMIM:218000
Hurler-Scheie Syndrome	Abnormality of the tonsils, Splenomegaly, Hepatomegaly	ORPHA:93476
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Hemochromatosis, Type 2A	Cirrhosis, Splenomegaly, Hepatomegaly	OMIM:602390
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombo...	OMIM:617591
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy	ORPHA:370968
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Combined Oxidative Phosphorylation Deficiency 24	Spasticity, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar atrophy, Agenesis of corp...	OMIM:616239
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia	OMIM:231095
Transaldolase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He...	OMIM:606003
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy	OMIM:300578
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory insufficiency, Abnormal periventricular white matter morphology, Degeneration of ante...	ORPHA:1145
Intellectual Developmental Disorder, Autosomal Dominant 65	Clumsiness, Ataxia, Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Agenesis of corpus callosum, Pachygyria	OMIM:614583
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly	OMIM:615637
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly	ORPHA:26792
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:616651
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:169090
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:619183
Prolidase Deficiency	Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Hepatomegaly, Thromboc...	OMIM:170100
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure, Cough, Respiratory distress, Tachypnea	OMIM:263000
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Reduced natural killer cell activity, Decreased circulating antibody level, Jaundice, Lym...	ORPHA:540
Fish-Eye Disease	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:79292
4Q21 Microdeletion Syndrome	Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Birk-Landau-Perez Syndrome	Limb hypertonia, Oculomotor apraxia, Choreoathetosis, Limb ataxia, Difficulty walking, Microcepha...	OMIM:617595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hypoplasia of the brainstem, Cerebellar dysplasia, Encephalocele, Cerebellar hypoplasia, Cerebell...	OMIM:613150
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Increased circulating IgA level, Hepatomegaly, In...	OMIM:617388
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Acute Lung Injury	Hypoxemia, Respiratory distress, Alcoholism, Dyspnea, Respiratory failure, Pneumonia, Tachypnea	ORPHA:178320
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Respiratory distress	ORPHA:240085
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	ORPHA:216866
Classic Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly	ORPHA:391
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Dysphagia, Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Telangiectasia, Hereditary Hemorrhagic, Type 2	Anemia, Hepatic arteriovenous malformation, Brain abscess, Cirrhosis, Polycythemia	OMIM:600376
Leigh Syndrome	Encephalomalacia, Abnormal brainstem MRI signal intensity, Choreoathetosis, Upper motor neuron dy...	ORPHA:506
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Ritscher-Schinzel Syndrome 4	Chorea, Cerebellar hypoplasia, Agenesis of corpus callosum, Ataxia, Athetosis, Dandy-Walker malfo...	OMIM:619435
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Abnormal cerebellum morphology, Nocturnal hypoventilation, Respiratory...	OMIM:211530
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:601777
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice	ORPHA:90033
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, Pancytopenia, Hepatosplenomeg...	OMIM:603553
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distress, Apnea...	OMIM:610921
Anaplastic Thyroid Carcinoma	Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Dysphagia	ORPHA:142
Mitochondrial Pyruvate Carrier Deficiency	Progressive microcephaly, Respiratory distress	OMIM:614741
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Microcephaly, Agenesis of corpus callosum	OMIM:619989
Avian Influenza	Myelitis, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural e...	ORPHA:454836
Folinic Acid-Responsive Seizures	Apnea, Cerebellar atrophy, Respiratory distress, Frontotemporal cerebral atrophy	ORPHA:79097
Hemophagocytic Lymphohistiocytosis, Familial, 1	Leukopenia, Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, ...	OMIM:267700
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Relapsing Fever	Leukopenia, Anemia, Jaundice, Neutrophilia, Leukocytosis, Thrombocytopenia	ORPHA:91547
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Splenomegaly	ORPHA:30
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati...	OMIM:617099
Stt3B-Cdg	Cerebellar atrophy, Respiratory distress, Microcephaly	ORPHA:370924
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Tip-toe gait, Spastic gait, Lateral ventricle dilatation, Limb hypertonia, Spastic paraplegia, Pa...	OMIM:617296
Leber Optic Atrophy	Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy	OMIM:535000
Chronic Granulomatous Disease	Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:379
Maternal Uniparental Disomy Of Chromosome X	Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:520
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea	ORPHA:922
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus c...	OMIM:136760
Ring Chromosome 22 Syndrome	Gait ataxia, Impaired pain sensation, Microcephaly, Absent septum pellucidum, Agenesis of corpus ...	ORPHA:1446
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Majeed Syndrome	Hypochromic microcytic anemia, Leukocytosis, Hepatomegaly, Splenomegaly, Congenital hypoplastic a...	ORPHA:77297
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Leber Congenital Amaurosis 15	Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves...	OMIM:613843
X-Linked Lissencephaly With Abnormal Genitalia	Spasticity, Pachygyria, Microcephaly, Agenesis of corpus callosum	ORPHA:452
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Sleep apnea, Partial agenesis of the corpus callosum, Cavum septum pellucidum, Cerebellar vermis ...	OMIM:619074
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level	ORPHA:2268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Death in infancy, Agyria, Hydr...	OMIM:614643
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr...	OMIM:602347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Spasticity, Cerebellar hypoplasia,...	OMIM:615287
Cln3 Disease	Bull's eye maculopathy, Pigmentary retinopathy, Optic atrophy	ORPHA:228346
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Hypopigmented skin patches, Optic atrophy, Abnormal retinal ...	ORPHA:2715
Sialidosis Type 2	Ascites, Splenomegaly, Hepatomegaly	ORPHA:87876
Bardet-Biedl Syndrome 9	Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:615986
Eosinophilic Gastroenteritis	Leukocytosis, Anemia, Ascites, Eosinophilia	ORPHA:2070
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc...	OMIM:616084
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, B lymphocytopenia, Generalize...	OMIM:614700
6Q25 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:251056
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Neurocutaneous Melanocytosis	Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Chorioreti...	ORPHA:2481
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Splenomegaly, Hepatomegaly	OMIM:613489
Cronkhite-Canada Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:2930
Agnathia-Otocephaly Complex	Tracheomalacia, Holoprosencephaly, Respiratory distress, Agenesis of corpus callosum	OMIM:202650
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec...	OMIM:102700
Vici Syndrome	Abnormal macular morphology, Hypopigmentation of the skin, Optic atrophy, Abnormality of retinal ...	ORPHA:1493
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean corpus...	ORPHA:231226
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Agenesis of corpus callosum, Hydrocephalus, Attention deficit hyperactivity disorder, Sleep apnea...	ORPHA:459061
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Syringomyelia, Chiari type I malformation, Agenesis of corpus ...	OMIM:613735
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,...	ORPHA:254864
Muckle-Wells Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:575
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Walker-Warburg Syndrome	Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Agenesi...	ORPHA:899
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves,...	ORPHA:88628
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Hepatic hemangioma, Throm...	ORPHA:2330
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:259700
Beta-Thalassemia Major	Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ...	ORPHA:231214
Mevalonic Aciduria	Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymph...	OMIM:610377
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti...	OMIM:618278
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly, Agenesis of corpus callosum	OMIM:618142
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal...	OMIM:601847
Muckle-Wells Syndrome	Leukocytosis	OMIM:191900
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the frontal lobes, Lobar holoprosencephaly, Lissencephaly, Optic nerve hypoplasia, ...	ORPHA:468631
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Auriculocondylar Syndrome 2	Apnea, Snoring, Respiratory distress	OMIM:614669
Glycogen Storage Disease Xii	Anemia, Normocytic anemia, Jaundice, Cholecystitis, Hepatomegaly, Cholelithiasis, Nonspherocytic ...	OMIM:611881
Malaria	Respiratory distress	ORPHA:673
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Cerebral cortical atrophy, Respiratory distress, Microcephaly, C...	OMIM:619272
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Laryngotracheoesophageal Cleft	Aspiration, Choking episodes, Impaired oropharyngeal swallow response, Cough, Dyspnea, Stridor, N...	ORPHA:2004
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Telangiectasia, Hereditary Hemorrhagic, Type 1	Anemia, Hepatic arteriovenous malformation, Brain abscess, Cirrhosis, Polycythemia	OMIM:187300
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Leigh Syndrome With Cardiomyopathy	Global brain atrophy, Basal ganglia gliosis, Neuronal loss in basal ganglia, Abnormal caudate nuc...	ORPHA:70474
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red...	OMIM:608233
Alexander Disease	Chorea, Spasticity, Abnormal pyramidal sign, Tetraplegia, Aqueductal stenosis, Hydrocephalus, Gai...	ORPHA:58
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Diaphanospondylodysostosis	Myelomeningocele, Respiratory distress	ORPHA:66637
Intellectual Developmental Disorder, Autosomal Recessive 65	Gait ataxia, Unsteady gait, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal...	OMIM:618109
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Spasticity, Babinski sign, Microcephaly, Cerebral atrophy, Hypertonia, Hypoplasia of the corpus c...	OMIM:615802
Encephalocraniocutaneous Lipomatosis	Cerebellar hypoplasia, Porencephalic cyst, Agenesis of corpus callosum, Hydrocephalus, Cortical d...	OMIM:613001
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Hepatitis, Fetal ascites, Cholestasis, Leukoc...	ORPHA:292
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar atrophy, Restle...	ORPHA:544503
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au...	ORPHA:1572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Kinked brainstem, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Agene...	OMIM:236670
Hyper-Igd Syndrome	Lymphadenitis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy...	OMIM:260920
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitial pneumoni...	OMIM:610913
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Microcephaly 13, Primary, Autosomal Recessive	Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Partial agenesis of the co...	OMIM:616051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Facial palsy	OMIM:613156
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Hereditary Chronic Pancreatitis	Recurrent pancreatitis, Jaundice, Pancreatic calcification, Leukocytosis	ORPHA:676
Kaposiform Lymphangiomatosis	Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ...	ORPHA:464329
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal j...	OMIM:257220
Immunodeficiency 47	Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu...	OMIM:300972
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell...	ORPHA:3261
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Microcephaly, Dyspnea, Respiratory distress, Cough	ORPHA:86812
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly	ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Bradykinesia, Babinski sign, Spastic tetraparesis, Hypoplasia of the corpus ...	OMIM:614924
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum	ORPHA:1812
Carney-Stratakis Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Paraganglioma, Dysphagia, Gastrointestinal s...	ORPHA:97286
Halperin-Birk Syndrome	Inability to walk, Spastic tetraplegia, Pseudobulbar paralysis, Semilobar holoprosencephaly, Hype...	OMIM:618651
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Hepatomegaly	ORPHA:834
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Pica, Small cerebral cortex, Central sleep apnea, Periventricular leukomalacia, Spina bifida occu...	OMIM:617360
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Spasticity, Cerebral cortical atrophy, Thin corpus callosum, Chiari type I malformation, Microcep...	OMIM:619720
Choanal Atresia	Abnormal nasal mucus secretion, Choking episodes, Respiratory distress, Chronic sinusitis, Upper ...	ORPHA:137914
Temtamy Syndrome	Thick corpus callosum, Agenesis of corpus callosum, Hypertonia	OMIM:218340
Brain-Lung-Thyroid Syndrome	Chorea, Falls, Apraxia, Clumsiness, Myoclonus, Choreoathetosis, Incoordination, Ataxia, Microceph...	ORPHA:209905
Mcleod Syndrome	Splenomegaly, Acanthocytosis, Hepatomegaly	OMIM:300842
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233710
Glycogen Storage Disease Ixc	Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly	OMIM:613027
Multiple Carboxylase Deficiency	Spinal cord posterior columns myelin loss, Respiratory distress, Tachypnea	ORPHA:148
Septo-Optic Dysplasia Spectrum	Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Hemiplegia/hemiparesis, Optic nerve ...	ORPHA:3157
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy, Neurogenic bladder	OMIM:222300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Spastic tetraplegia, Microcephaly, Agenesis of corpus callosum, Tetraplegia	OMIM:300004
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:85414
Fanconi Anemia, Complementation Group I	Chiari malformation, Optic nerve hypoplasia, Microcephaly, Absent septum pellucidum, Agenesis of ...	OMIM:609053
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Anemia, Hepatic fibrosis, Lymphadenopathy, Cholestasis, Leukocytosis, Hepatomegaly...	OMIM:615895
Cerebrofacioarticular Syndrome	Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Agenesis of ...	ORPHA:314679
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Splenomegaly, Hepatomegaly, Intrahepatic cholestasis	OMIM:235555
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei	ORPHA:250999
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Cholangitis	OMIM:614204
Adrenomyeloneuropathy	Progressive spastic paraparesis, Spasticity, Spastic gait, Cerebral dysmyelination, Babinski sign...	ORPHA:139399
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Triosephosphate Isomerase Deficiency	Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti...	OMIM:615512
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Pancytopenia, Impaired T cell function, Cholestasis, Hepatomegaly, Thrombocytopenia, D...	OMIM:614576
Lig4 Syndrome	Pancytopenia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Acute leukemia	ORPHA:99812
Meconium Aspiration Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr...	ORPHA:70588
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:585
Adams-Oliver Syndrome 6	Portal hypertension, Hepatic fibrosis, Splenomegaly	OMIM:616589
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
Braddock-Carey Syndrome 1	Spastic diplegia, Microcephaly, Agenesis of corpus callosum	OMIM:619980
Hydrolethalus	Anencephaly, Arrhinencephaly, Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2189
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233690
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Microcephaly, Hypoplasia of olfactory tract, Lower l...	ORPHA:314621
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen...	OMIM:612541
Diffuse Alveolar Hemorrhage	Anemia, Thrombocytopenia, Leukocytosis	ORPHA:90060
Bardet-Biedl Syndrome 17	Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ...	OMIM:615994
Smith-Magenis Syndrome	Aplasia/Hypoplasia of the corpus callosum, Corticospinal tract hypoplasia, Gait disturbance, Impa...	ORPHA:819
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ...	OMIM:617394
Marden-Walker Syndrome	Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Agenes...	OMIM:248700
Immunodeficiency 49	Reduced cerebral white matter volume, Spastic tetraplegia, Agenesis of corpus callosum, Eosinophilia	OMIM:617237
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callos...	OMIM:620073
Caroli Disease	Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver absces...	ORPHA:53035
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, Schist...	OMIM:274150
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Abscess, Hepatomegaly	OMIM:612852
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Enlarged kidney, Macrovesicular hepatic steatosis, Bone marrow hypocellularit...	OMIM:617303
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea	OMIM:614299
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum	ORPHA:139471
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Lateral ventricle dilatation, Simplified gyral pattern, Microcephaly, Cerebr...	OMIM:619244
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Jaundice, Hepatomegaly, Splenomegaly	OMIM:608885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ...	OMIM:251880
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he...	ORPHA:90041
Waldenström Macroglobulinemia	Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatomegaly, Monoclona...	ORPHA:33226
Radio-Tartaglia Syndrome	Gait imbalance, Ataxia, Tremor, Microcephaly, Agenesis of corpus callosum	OMIM:619312
X-Linked Centronuclear Myopathy	Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress	ORPHA:596
Xeroderma Pigmentosum, Complementation Group B	Freckling, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy	OMIM:610651
Osteopetrosis, Autosomal Recessive 5	Anemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Leukocytosis, Extramedul...	OMIM:259720
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Hydrocephalus, Respiratory distress, Megalencephaly, Hypoplasia ...	OMIM:616482
Pseudo-Torch Syndrome 1	Jaundice, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:251290
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Congenital Disorder Of Glycosylation, Type Ie	Secondary microcephaly, Respiratory distress, Pontocerebellar atrophy	OMIM:608799
Gaucher Disease, Type Ii	Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly	OMIM:230900
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:563612
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis	ORPHA:2902
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Asthma, Hypoxemia, Respiratory distress, Oxygen desaturation on exertion, Crackles, Restrictive v...	OMIM:610978
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Partial agenesis of the corpus callosum, Microcephaly, Cerebellar atrophy, ...	OMIM:619103
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged ...	OMIM:607625
Emanuel Syndrome	Chiari malformation, Agenesis of corpus callosum, Hydrocephalus, Abnormal cerebral white matter m...	ORPHA:96170
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly, Hepatomegaly	OMIM:617050
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Sepsis In Premature Infants	Anemia, Jaundice, Leukocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:90051
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly...	OMIM:607765
Developmental And Epileptic Encephalopathy 68	Cerebral cortical atrophy, Respiratory distress, Microcephaly	OMIM:618201
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Global brain atrophy, Death in infancy, Respiratory distress, Apnea, Cerebellar atrophy, Microcep...	OMIM:618426
Desmosterolosis	Spasticity, Abnormal cortical gyration, Rigidity, Macrogyria, Hydrocephalus, Lissencephaly, Micro...	ORPHA:35107
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Splenomegaly, Hepatomegaly	OMIM:252920
Acromelic Frontonasal Dysplasia	Retrocerebellar cyst, Meningocele, Encephalocele, Hypoplasia of the olfactory bulb, Upper airway ...	ORPHA:1827
Myotonic Dystrophy 1	Respiratory distress, Cerebral atrophy, Dysphagia	OMIM:160900
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Hydrocephalus, Respiratory distress, Probst bundles, Agenesis of co...	OMIM:612863
Caroli Syndrome	Leukopenia, Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangiocarc...	ORPHA:480520
Necrotizing Enterocolitis	Peritonitis, Thrombocytopenia, Leukocytosis, Ascites, Neutropenia	ORPHA:391673
Pyruvate Carboxylase Deficiency	Periventricular cysts, Basal ganglia gliosis, Tip-toe gait, Abnormal pyramidal sign, Hyperintensi...	ORPHA:3008
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly	ORPHA:261304
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Hemochromatosis, Type 1	Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly	OMIM:235200
Typhoid	Splenomegaly, Hepatomegaly	ORPHA:99745
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Paradoxical respiration, Respiratory distress	OMIM:620011
Intellectual Disability-Strabismus Syndrome	Spasticity, Gait disturbance, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus...	ORPHA:363528
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Cerebellar vermis hypoplasia, Attention deficit hyperactivity disorder, Hyp...	OMIM:619383
Nipah Virus Disease	Cough, Respiratory distress	ORPHA:99825
Mastocytosis	Mastocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia	ORPHA:98292
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Infantile Liver Failure Syndrome 3	Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasis, Hepatomegaly, Splenomegaly	OMIM:618641
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Ciliary dyskinesia	OMIM:606763
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple...	ORPHA:131
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Jaundice, Hepatomegaly, Thrombocytopenia, S...	ORPHA:525731
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cerebellar hypoplasia, Respiratory distress, Microcephaly, Neonatal respiratory distress, Tracheo...	OMIM:217980
Curry-Jones Syndrome	Hemimegalencephaly, Lipomyelomeningocele, Megalencephaly, Chiari type I malformation, Occipital m...	OMIM:601707
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis	OMIM:235400
Whim Syndrome	Lymphadenitis, Abnormality of neutrophil morphology, Decreased circulating antibody level, Lympho...	ORPHA:51636
Moebius Syndrome	Hypoplasia of the brainstem, Respiratory distress, Dysphagia	OMIM:157900
Hyperparathyroidism, Neonatal Severe	Anemia, Splenomegaly, Hepatomegaly	OMIM:239200
Cohen Syndrome	Chorioretinal dystrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Optic a...	OMIM:216550
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cholestasis	OMIM:615630
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hepatomegaly, Splenomeg...	OMIM:612301
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Japanese Encephalitis	Cerebral edema, Abnormal substantia nigra morphology, Abnormal cerebral morphology, Respiratory p...	ORPHA:79139
Micro Syndrome	Retinal coloboma, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2510
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Cerebellar vermis hypoplasia, Cerebral calcification, Pachygyria, Neonatal respira...	ORPHA:157
Legionnaires Disease	Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Lymphadenopathy, Bone marrow hypocellularity, Spl...	ORPHA:549
Baraitser-Winter Syndrome 1	Pachygyria, Lissencephaly, Microcephaly, Agenesis of corpus callosum	OMIM:243310
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas...	OMIM:613812
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis	ORPHA:83601
Gaucher Disease, Type Iiic	Cardiomegaly, Splenomegaly, Pancytopenia, Hepatomegaly	OMIM:231005
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenom...	ORPHA:809
Holoprosencephaly 14	Aqueductal stenosis, Hydrocephalus, Alobar holoprosencephaly, Partial absence of cerebellar vermi...	OMIM:619895
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Global brain atrophy, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of ...	OMIM:301056
Stromme Syndrome	Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Stillbirth, Agenesis ...	OMIM:243605
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:616449
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Respiratory insufficiency, Death in infancy, Apnea, Basal ganglia cysts, Microcephaly, Intracereb...	OMIM:608836
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Agitation, Microcephaly	ORPHA:927
Pseudotrisomy 13 Syndrome	Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Microcephaly, Agenesis of...	OMIM:264480
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:612387
Cryoglobulinemic Vasculitis	Abnormality of the liver, Viral hepatitis, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:91138
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatom...	OMIM:306400
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Respiratory distress, Pr...	ORPHA:329178
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly	OMIM:252900
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly	OMIM:230600
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis	ORPHA:51890
Adams-Oliver Syndrome 5	Hypersplenism, Right ventricular hypertrophy, Splenomegaly, Portal vein thrombosis	OMIM:616028
Mercury Poisoning	Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Dyspne...	ORPHA:330021
Congenital Diaphragmatic Hernia	Hypoxemia, Respiratory distress	ORPHA:2140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Retinal dysplasia, Pigmentary retinopathy, Optic atrophy	OMIM:613154
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Episodic Ataxia Type 1	Cerebellar atrophy, Respiratory distress	ORPHA:37612
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Respiratory distress, Death in infancy	OMIM:300219
Congenital Disorder Of Deglycosylation 2	Thin corpus callosum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysp...	OMIM:619775
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Pancytopenia, Decreased circulating IgA level, Hepatomegaly, Portal hyp...	OMIM:613385
Familial Mediterranean Fever	Neutrophilia, Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly	OMIM:249100
Lysinuric Protein Intolerance	Leukopenia, Anemia, Pancreatitis, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:222700
Q Fever	Anemia, Abnormality of the liver, Increased circulating antibody level, Granuloma, Hepatitis, Hep...	ORPHA:781
Chédiak-Higashi Syndrome	Anemia, Neutropenia, Jaundice, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Lymp...	ORPHA:167
1Q44 Microdeletion Syndrome	Hydrocephalus, Microcephaly, Agenesis of corpus callosum	ORPHA:238769
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ...	ORPHA:370
Encephalocraniocutaneous Lipomatosis	Spasticity, Cerebral cortical atrophy, Subcortical cerebral atrophy, Tetraplegia, Hemiparesis, Ri...	ORPHA:2396
Paragangliomas 4	Glomus jugular tumor, Renal cell carcinoma, Gastrointestinal stroma tumor, Chemodectoma, Paragang...	OMIM:115310
Gm1-Gangliosidosis, Type I	Vacuolated lymphocytes, Splenomegaly, Hepatomegaly	OMIM:230500
American Trypanosomiasis	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:3386
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Abnormal erythrocyte enzyme level, Portal fibrosis, Hepatic ...	ORPHA:264580
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Poikiloderma With Neutropenia	Leukopenia, Neutropenia, Splenomegaly	OMIM:604173
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Dyspnea, Respiratory distress	ORPHA:2759
Mosaic Variegated Aneuploidy Syndrome 1	Cerebellar hypoplasia, Hypodysplasia of the corpus callosum, Cerebral hypoplasia, Agenesis of cor...	OMIM:257300
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect	OMIM:617319
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Retinal pigment epithelial mottling, Peripheral...	OMIM:618733
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Anemia, Lung abscess, Leukocytosis	ORPHA:67
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots	OMIM:214110
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Gaucher Disease, Perinatal Lethal	Anemia, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly	OMIM:608013
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Upper airway obstruction, Respiratory distress	ORPHA:100057
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Microcephaly, Agenesis of corpus callosum	OMIM:612940
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Foxg1 Syndrome Due To 14Q12 Microdeletion	Microcephaly, Agenesis of corpus callosum	ORPHA:261144
Apolipoprotein C-Ii Deficiency	Pancreatitis, Splenomegaly, Hepatomegaly	OMIM:207750
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:612582
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Leukopenia, Anemia, Lymphocytosis, Generalized lymphadenopathy, L...	ORPHA:50918
8P Inverted Duplication/Deletion Syndrome	Progressive spastic paraplegia, Spastic tetraplegia, Cerebellar hypoplasia, Agenesis of corpus ca...	ORPHA:96092
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Microlissencephaly-Micromelia Syndrome	Secondary microcephaly, Respiratory distress, Lissencephaly, Cerebellar hypoplasia	ORPHA:50810
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatocellular carcinoma, Ulcerative colitis, Ce...	ORPHA:171
Slc35A1-Cdg	Pneumonia, Hypoxemia, Respiratory distress	ORPHA:238459
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Inability to walk, Lateral ventricle dilatation, Microcephaly, Difficulty walking, Ce...	ORPHA:464738
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Hepatocellular adeno...	ORPHA:79240
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Death in infancy, Apnea, Dyspnea, Respiratory failure, Neonatal ...	OMIM:265120
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Agenesis of corpus callosum, Hydrocephalus, Polymicrogyria, Cerebral calcification, Pachygyria, N...	ORPHA:228308
Duodenal Neuroendocrine Tumor	Extrahepatic cholestasis, Increased hematocrit, Insulinoma, Lymphadenopathy, Iron deficiency anem...	ORPHA:100076
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splen...	ORPHA:77261
Juvenile Idiopathic Arthritis	Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:92
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosu...	OMIM:620113
Autoimmune Hepatitis	Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Sclerosing cholangitis, Dif...	ORPHA:2137
Multiple Myeloma	Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I...	ORPHA:29073
Chromosome 14Q11-Q22 Deletion Syndrome	Spasticity, Inability to walk, Thin corpus callosum, Microcephaly, Pachygyria, Hypertonia, Hypopl...	OMIM:613457
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Anemia, Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic...	OMIM:619418
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Nizon-Isidor Syndrome	Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Agenesis of corpus c...	OMIM:618872
Infant Acute Respiratory Distress Syndrome	Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea	ORPHA:70587
Tetanus	Dysphagia, Respiratory distress, Tachypnea	ORPHA:3299
Whipple Disease	Anemia, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:3452
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Impulsivity, Attention deficit hyperactivity disorder, Agenesis of corpus callosum	OMIM:618929
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Hepatic fibrosis, Sclerosing cholangitis, Jaundice, Bile duct proli...	OMIM:607626
Achondroplasia	Death in infancy, Hydrocephalus, Respiratory distress, Brain stem compression, Upper airway obstr...	OMIM:100800
Acromelic Frontonasal Dysostosis	Retrocerebellar cyst, Tubulonodular pericallosal lipoma, Encephalocele, Calcification of falx cer...	OMIM:603671
Hypoglossia With Situs Inversus	Upper airway obstruction, Respiratory distress	OMIM:612776
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly...	OMIM:208540
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Leukoencephalopathy, Exertional dyspnea, Respiratory distress, Respiratory failure, Death in chil...	OMIM:220110
Synaptic Congenital Myasthenic Syndromes	Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ...	ORPHA:98915
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Spherocytosis	ORPHA:251066
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent aspiration pneumonia, Cerebellar...	OMIM:602535
Melas	Cerebral cortical atrophy, Hemiparesis, Myoclonus, Gait disturbance, Aplasia/Hypoplasia of the ce...	ORPHA:550
Opitz Gbbb Syndrome	Aspiration, Microcephaly, Dysphagia, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	OMIM:300000
Bohring-Opitz Syndrome	Hypoplasia of the brainstem, Agenesis of corpus callosum, Microcephaly, Hypoplasia of the corpus ...	OMIM:605039
Presynaptic Congenital Myasthenic Syndromes	Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re...	ORPHA:98914
Pudendal Neuralgia	Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm, Constipation	ORPHA:60039
Congenital Myasthenic Syndrome	Episodic respiratory distress, Central sleep apnea, Choking episodes, Intermittent episodes of re...	ORPHA:590
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Abnormal dentate nucleus morphology, Aqueductal stenosis, Elongated superior cerebellar peduncle,...	OMIM:619512
Doors Syndrome	Thrombocytosis	ORPHA:79500
Acquired Methemoglobinemia	Dyspnea, Hypoxemia, Respiratory distress	ORPHA:464453
Sweet Syndrome	Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Leukoc...	ORPHA:3243
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:222448
Tetrasomy 5P	Pulmonary arterial hypertension, Cerebellar hypoplasia, Hydrocephalus, Respiratory distress, Peri...	ORPHA:3309
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Microcephaly, Agenesis of corpus callosum, Hypertonia	ORPHA:261236
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly	OMIM:263700
Maternal Uniparental Disomy Of Chromosome 4	Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Neurogenic bladder	ORPHA:96180
Polycythemia Vera	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly	ORPHA:729
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin...	ORPHA:85167
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Peritonitis, Reticulocytosis, Schistocytosis, Leukocytosis, Th...	ORPHA:90038
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Porencephalic cyst, Arrhinencephaly, Polymicrogyria, Occipital meningoce...	OMIM:277170
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysphagia	ORPHA:98805
Immunodeficiency 31C	Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:614162
Glycogen Storage Disease Ib	Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Pancreatic fibrosis, Hepatomegaly, Neutr...	OMIM:232220
Shigellosis	Microangiopathic hemolytic anemia, Peritonitis, Cholestasis, Leukocytosis, Thrombocytopenia, Sple...	ORPHA:810
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Encephalocele, Anencephaly, Agenesis of corpus callosum, Microcephaly, Dandy-Walke...	OMIM:619148
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Subcortical cerebral atrophy, Microcephaly, Absent septum pellucidum, ...	ORPHA:96147
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Urachal Cyst	Peritonitis, Abscess, Abdominal mass, Leukocytosis	ORPHA:488
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti...	ORPHA:1969
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Apert Syndrome	Respiratory insufficiency, Chiari malformation, Hydrocephalus, Absent septum pellucidum, Agenesis...	ORPHA:87
Primary Lipodystrophy	Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly	ORPHA:90970
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar vermis atrophy, Colpocephaly, Cerebellar hypoplasia, Macrogyria, Pachygyria, Cerebella...	OMIM:614866
Trichothiodystrophy	Gait ataxia, Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Periventricular leuk...	ORPHA:33364
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Microform Holoprosencephaly	Asthma, Holoprosencephaly, Microcephaly, Agenesis of corpus callosum	ORPHA:280200
Hyperlipoproteinemia, Type I	Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Oromandibular Dystonia	Respiratory distress, Dysphagia	ORPHA:93958
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum	OMIM:612337
Cohen Syndrome	Chorioretinal dystrophy, Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal ...	ORPHA:193
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Spasticity, Semilobar holoprosencephaly, Lobar holoprosencephaly, Microcephaly, Hypoplasia of the...	OMIM:618500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Pulmonary arterial hypertension, Respiratory distress, Hypoplasia of the corpus callosum, Microce...	ORPHA:2519
Nasolacrimal Duct Cyst	Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory...	ORPHA:141083
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure, Dyspnea, Respiratory distress, Microcephaly	ORPHA:2707
Beare-Stevenson Cutis Gyrata Syndrome	Chiari malformation, Hydrocephalus, Respiratory distress, Agenesis of corpus callosum	OMIM:123790
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Fructose-1,6-Bisphosphatase Deficiency	Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre...	ORPHA:348
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Abs...	OMIM:612651
Spondylometaphyseal Dysplasia, Sedaghatian Type	Respiratory insufficiency, Cerebellar hypoplasia, Cardiorespiratory arrest, Pachygyria, Agenesis ...	ORPHA:93317
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Splenomegaly, Hepatomegaly	OMIM:201100
Desmosterolosis	Spasticity, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Partial agenesis of the cor...	OMIM:602398
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly	OMIM:230000
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Aceruloplasminemia	Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Xp21 Deletion Syndrome	Spasticity, Agenesis of corpus callosum	ORPHA:261476
Mosaic Trisomy 1	Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Agenesis of co...	ORPHA:1692
Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Bull's eye maculopathy, ...	ORPHA:157850
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Agenesis of corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of ...	ORPHA:457284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in p...	ORPHA:37042
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Dyskeratosis Congenita	Anemia, Cirrhosis, Neoplasm of the pancreas, Abnormality of neutrophils, Bone marrow hypocellular...	ORPHA:1775
Chitayat Syndrome	Tracheomalacia, Respiratory distress	OMIM:617180
Congenital Tracheomalacia	Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneumothorax, ...	ORPHA:95430
Cono-Spondylar Dysplasia	Poor coordination, Partial agenesis of the corpus callosum	ORPHA:420794
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Respiratory insufficiency, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:617260
Wolfram Syndrome 2	Optic neuropathy, Optic atrophy, Neurogenic bladder	OMIM:604928
Holoprosencephaly 7	Hypoplasia of the brainstem, Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly,...	OMIM:610828
Aicardi Syndrome	Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:50
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Pachydermoperiostosis	Anemia, Splenomegaly, Hepatomegaly	ORPHA:2796
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly	OMIM:615947
Pfeiffer Syndrome Type 2	Chiari malformation, Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia	ORPHA:93259
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Agenesis of corpus callosum, Hydrocephalus, Syringomyelia, Dandy...	ORPHA:314585
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Respiratory distress, Pachygyria	OMIM:231680
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Congenital Erythropoietic Porphyria	Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	ORPHA:79277
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory insufficiency, Abnormal neuron branching, Respiratory distress	ORPHA:367
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Hepatic steatosis, Hepatomegaly, Chol...	ORPHA:567983
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia, Microcephaly, Cerebral atrophy, Cerebellar atrophy	OMIM:616271
Inhalational Anthrax	Dyspnea, Respiratory distress	ORPHA:247257
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia, Dandy-Walker malformation, Aplasia/Hypoplasia of the cerebellar v...	ORPHA:2745
Pearson Syndrome	Anemia, Abnormality of the liver, Macronodular cirrhosis, Reticulocytosis, Pancytopenia, Hypoplas...	ORPHA:699
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl...	ORPHA:2526
Werner Syndrome	White forelock, Premature graying of hair, Abnormality of retinal pigmentation	ORPHA:902
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia	ORPHA:314655
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Holoprosencephaly, Hypoxemia, Agenesis of corpus callosum	ORPHA:556955
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c...	OMIM:263200
Leukocyte Adhesion Deficiency, Type I	Rectal abscess, Leukocytosis	OMIM:116920
Carney Triad	Diarrhea, Pheochromocytoma, Gastrointestinal hemorrhage, Paraganglioma, Gastrointestinal stroma t...	ORPHA:139411
Tyrosinemia, Type I	Anemia, Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Pancreatic islet-cell...	OMIM:276700
Semilobar Holoprosencephaly	Aspiration pneumonia, Abnormal brainstem morphology, Neural tube defect, Hydrocephalus, Abnormal ...	ORPHA:220386
Alobar Holoprosencephaly	Aspiration pneumonia, Abnormal brainstem morphology, Neural tube defect, Hydrocephalus, Abnormal ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia, Abnormal brainstem morphology, Neural tube defect, Hydrocephalus, Abnormal ...	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia, Abnormal brainstem morphology, Neural tube defect, Hydrocephalus, Abnormal ...	ORPHA:93924
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Kleefstra Syndrome	Cerebral cortical atrophy, Dyspnea, Microcephaly, Tracheomalacia, Agenesis of corpus callosum	ORPHA:261494
Autosomal Dominant Cerebellar Ataxia	Retinal degeneration, Macular degeneration, Sensory axonal neuropathy, Peripheral axonal neuropat...	ORPHA:99
Genitopatellar Syndrome	Apnea, Microcephaly, Agenesis of corpus callosum	ORPHA:85201
Oculopharyngodistal Myopathy 1	Aspiration, Reduced forced vital capacity, Respiratory distress, Hypercapnia, Abnormal cerebral w...	OMIM:164310
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Retroperitoneal fibrosis, Hepatosplenomegaly, Lymphadenopathy, Hepatomegal...	OMIM:602782
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly	ORPHA:53715
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology	OMIM:251000
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Splenomegaly	ORPHA:584
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Peritonitis, Splenomegaly, Leukocytosis	ORPHA:32960
Infantile Krabbe Disease	Abnormal periventricular white matter morphology, Hypointensity of cerebral white matter on MRI, ...	ORPHA:206436
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Respiratory distress	OMIM:617895
Stevens-Johnson Syndrome	Thrombocytopenia, Pancreatitis, Anemia, Abnormality of neutrophils	ORPHA:36426
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Cockayne Syndrome Type 1	Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory responses, H...	ORPHA:90321
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Primary Triglyceride Deposit Cardiomyovasculopathy	Pancreatitis, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly	ORPHA:565612
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Agenesis of corpus callosum	OMIM:309520
Aicardi-Goutieres Syndrome 7	Anemia, Hemolytic anemia, Increased circulating antibody level, Hepatitis, Generalized lymphadeno...	OMIM:615846
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Agenesis of corpus callosum, Recurrent aspiration pneumonia	OMIM:300472
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory distress, Multifocal hyperintensity of cerebral white matt...	ORPHA:308552
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Acholic stools, Bile duct prolifer...	ORPHA:30391
Aicardi Syndrome	Chiari malformation, Lateral ventricle dilatation, Cavum septum pellucidum, Spina bifida, Polymic...	OMIM:304050
Genitourinary And/Or Brain Malformation Syndrome	Chiari malformation, Colpocephaly, Holoprosencephaly, Secondary microcephaly, Absent septum pellu...	OMIM:618820
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Monosomy 13Q34	Microcephaly, Agenesis of corpus callosum	ORPHA:96168
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Cholestasis, ...	OMIM:610199
Bohring-Opitz Syndrome	Inability to walk, Agenesis of corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, ...	ORPHA:97297
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Motor axonal neuropathy, Abnormal peripheral myelination, Abnormality of retinal pigmentation, De...	ORPHA:466768
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy	OMIM:240300
Reynolds Syndrome	Biliary cirrhosis, Jaundice, Lymphopenia, Cholestasis, Hepatomegaly, Splenomegaly	OMIM:613471
Apert Syndrome	Cerebellar hypoplasia, Hydrocephalus, Megalencephaly, Chiari type I malformation, Absent septum p...	OMIM:101200
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Dyspnea, Respiratory distress, Hyperintensity of cerebral white ...	ORPHA:363705
Autosomal Recessive Polycystic Kidney Disease	Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun...	ORPHA:731
Diaphanospondylodysostosis	Respiratory insufficiency, Tracheomalacia, Respiratory distress, Polymicrogyria	OMIM:608022
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Sotos Syndrome	Poor coordination, Partial agenesis of the corpus callosum, Cavum septum pellucidum	OMIM:117550
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormal cortical gyration, Cerebellar hypoplasia, Respiratory distress, Hypoplasia of the corpus...	OMIM:300968
Hereditary Angioedema Type 1	Dyspnea, Inspiratory stridor, Respiratory distress, Dysphagia	ORPHA:100050
Orofaciodigital Syndrome Type 5	Microcephaly, Agenesis of corpus callosum	ORPHA:2919
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Respiratory insufficiency, Hypoplasia of the frontal lobes, Colpocephaly, Lateral ventricle dilat...	OMIM:210710
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypopla...	OMIM:301043
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Mogs-Cdg	Apnea, Hypoventilation, Respiratory distress, Hypoplasia of the corpus callosum	ORPHA:79330
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Microphthalmia, Syndromic 3	Spastic diplegia, Spastic tetraplegia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the co...	OMIM:206900
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Alstrom Syndrome	Pigmentary retinopathy, Cone/cone-rod dystrophy	OMIM:203800
Orofaciodigital Syndrome I	Myelomeningocele, Abnormal cortical gyration, Porencephalic cyst, Cerebellar cyst, Hydrocephalus,...	OMIM:311200
Histiocytoid Cardiomyopathy	Cerebellar malformation, Hydrocephalus, Cough, Agenesis of corpus callosum, Tachypnea	ORPHA:137675
Pfeiffer Syndrome Type 3	Tracheomalacia, Chiari malformation, Respiratory distress, Aqueductal stenosis	ORPHA:93260
Biotinidase Deficiency	Splenomegaly, Hepatomegaly	OMIM:253260
Wilson Disease	Anemia, Cirrhosis, Hemolytic anemia, Jaundice, Hepatocellular carcinoma, Atypical or prolonged he...	OMIM:277900
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Microcephaly, Agenesis of corpus callosum	ORPHA:250989
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum, Spastic paraplegia	ORPHA:847
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Leukoencephalopathy, Hydrocephalus, Respirat...	ORPHA:79282
Biotinidase Deficiency	Apnea, Myelopathy, Hyperventilation, Respiratory distress	ORPHA:79241
Spondyloepiphyseal Dysplasia Congenita	Restrictive ventilatory defect, Respiratory distress, Cervical myelopathy	OMIM:183900
Cryptococcosis	Cerebral edema, Cerebral cortical atrophy, Hydrocephalus, Respiratory distress, Pleural effusion,...	ORPHA:1546
Heterotaxy, Visceral, 2, Autosomal	Microcephaly, Agenesis of corpus callosum	OMIM:605376
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Microcephaly, Agenesis of corpus callosum	ORPHA:261323
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cerebellar cyst, Agenesis of corpus callosum	OMIM:613091
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Orofaciodigital Syndrome V	Overfriendliness, Microcephaly, Agenesis of corpus callosum	OMIM:174300
Fryns Syndrome	Cerebral cortical atrophy, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:2059
Marden-Walker Syndrome	Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus, Microcephaly, Absent...	ORPHA:2461
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Pigmentary retinopathy	OMIM:214100
Phace Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Hemiplegia/hemiparesis, Optic nerve hypoplasi...	ORPHA:42775
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, Autoimmune thrombo...	ORPHA:77293
Adnp Syndrome	Aspiration, Respiratory distress, Attention deficit hyperactivity disorder, Polyphagia, Microceph...	ORPHA:404448
Cockayne Syndrome	Retinal hemorrhage, Retinal arteriolar constriction, Optic atrophy, Neurogenic bladder, Retinal a...	ORPHA:191
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Subretinal pigment epithelium hemorrh...	ORPHA:790
Meckel Syndrome, Type 1	Dilated fourth ventricle, Molar tooth sign on MRI, Chiari malformation, Cerebellar hypoplasia, Ce...	OMIM:249000
Orofaciodigital Syndrome Xiv	Molar tooth sign on MRI, Cerebellar hypoplasia, Simplified gyral pattern, Polymicrogyria, Holopro...	OMIM:615948
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, B ...	OMIM:619381
Mandibulofacial Dysostosis, Guion-Almeida Type	Progressive microcephaly, Respiratory distress, Microcephaly	OMIM:610536
Mucopolysaccharidosis Type 2	Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti...	ORPHA:580
Radio-Renal Syndrome	Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure	ORPHA:3015
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Lujo Hemorrhagic Fever	Cerebral edema, Rhinitis, Respiratory distress, Crackles, Dysphagia, Nonproductive cough	ORPHA:319213
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Anemia, Hemolytic anemia, Jaundice, Abnormal erythrocyte enzyme level, Erythroid hype...	ORPHA:447
Coffin-Siris Syndrome	Oral aversion, Hyperactivity, Aspiration pneumonia, Simplified gyral pattern, Agenesis of corpus ...	ORPHA:1465
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Respiratory distress, Tachypnea, Episodic tachypnea	ORPHA:26793
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:505248
Cockayne Syndrome A	Abnormality of skin pigmentation, Optic atrophy, Abnormal peripheral myelination, Retinal atrophy...	OMIM:216400
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Kniest Dysplasia	Tracheomalacia, Respiratory distress	OMIM:156550
Bardet-Biedl Syndrome 1	Rod-cone dystrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Retinal dystrophy,...	OMIM:209900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Hydrocephalus, Attention deficit hyperactivity disorder, Chiari type I malformation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Hydrocephalus, Attention deficit hyperactivity disorder, Chiari type I malformation...	ORPHA:363958
Esophageal Atresia	Oral aversion, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngotracheomal...	ORPHA:1199
Mitochondrial Dna-Associated Leigh Syndrome	Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Segmental peripheral demyelination/rem...	ORPHA:255210
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Hepatic fibrosis, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Cholelithiasis, Abn...	ORPHA:2072
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Microcephaly, Age...	OMIM:615465
Vici Syndrome	Microcephaly, Dysphagia, Schizencephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	OMIM:242840
Hepatoerythropoietic Porphyria	Hemolytic anemia, Splenomegaly, Erythroid hyperplasia	ORPHA:95159
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Difficulty walking, Agenesis of corpus callosum	OMIM:618748
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Attention deficit hyperactivity disorder, Microcephaly, Hypoplasia of the corpus c...	OMIM:227646
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:667
Alternating Hemiplegia Of Childhood	Aspiration, Respiratory distress, Apnea, Impulsivity, Dysphagia, Oral-pharyngeal dysphagia	ORPHA:2131
Cocaine Intoxication	Pneumothorax, Ischemic stroke, Wheezing, Respiratory distress, Agitation, Cough, Hyperventilation...	ORPHA:90068
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Jacobsen Syndrome	Death in infancy, Spina bifida, Attention deficit hyperactivity disorder, Pachygyria, Cerebral at...	ORPHA:2308
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Hardikar Syndrome	Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, Hypersplenism, Jaundice, Intrahepatic b...	OMIM:301068
Holoprosencephaly 1	Cerebellar hypoplasia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Orofaciodigital Syndrome Type 1	Ataxia, Tremor, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:2750
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Auriculocondylar Syndrome	Snoring, Obstructive sleep apnea, Respiratory distress	ORPHA:137888
Toriello-Lacassie-Droste Syndrome	Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:3339
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Spina bifida occulta, Microcephaly, Dysplastic corpus callosum, Agenes...	OMIM:151050
Craniofrontonasal Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:304110
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Microcephaly	ORPHA:438216
Osteogenesis Imperfecta, Type X	Recurrent pneumonia, Chronic lung disease, Death in childhood, Respiratory distress	OMIM:613848
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Inability to walk, Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Hypoplasia of t...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Inability to walk, Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Hypoplasia of t...	ORPHA:352665
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Respiratory distress	ORPHA:1555
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Exertional dyspnea, Respiratory distress, Orthopnea, Dysphagia, Respir...	ORPHA:365
Camurati-Engelmann Disease	Leukopenia, Anemia, Splenomegaly, Hepatomegaly	ORPHA:1328
Crimean-Congo Hemorrhagic Fever	Leukopenia, Hemoperitoneum, Jaundice, Neutrophilia, Pancytopenia, Acute pancreatitis, Lymphadenop...	ORPHA:99827
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Ataxia, Microcephaly, Agenesis of corpus callosum	ORPHA:280
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Molar tooth sign on MRI, Open operculum, Partial agenesis of the corpus...	ORPHA:434179
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly, Death in infancy	OMIM:617478
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough, Dysphagia, Polydipsia	ORPHA:537
Congenital Disorder Of Glycosylation, Type Iiw	Anemia, Prolonged neonatal jaundice, Increased hepatic echogenicity, Hepatic steatosis, Bile duct...	OMIM:619525
Neu-Laxova Syndrome 1	Cerebellar hypoplasia, Spina bifida, Primary microcephaly, Agenesis of corpus callosum, Lissencep...	OMIM:256520
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Axonal loss, Cone/cone-rod dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:404454
Neurofibromatosis Type 1	Spinal neurofibromas, Melanocytic nevus, Plexiform neurofibroma, Abnormality of retinal pigmentat...	ORPHA:636
Williams Syndrome	Spasticity, Cerebral cortical atrophy, Gait imbalance, Chiari malformation, Abnormality of extrap...	ORPHA:904
Opitz-Kaveggia Syndrome	Spasticity, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Apnea, Spina bifida occulta, Partial agenesis of the corpus callosum, Tracheomalacia	OMIM:300373
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of skin pigmentation, Vitritis, Retinal dystrophy, Abnormality of retinal pigmentatio...	ORPHA:2556
Fryns Syndrome	Arrhinencephaly, Agenesis of corpus callosum, Chylothorax, Stillbirth, Hypoplasia of olfactory tr...	OMIM:229850
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Sensory axonal neuropathy, Peripheral axonal neuropathy, Retinal pigment epithelial mottling	OMIM:607459
Mucopolysaccharidosis Type 2, Severe Form	Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Papi...	ORPHA:217085
Mgat2-Cdg	Progressive microcephaly, Respiratory distress, Cerebellar hypoplasia	ORPHA:79329
Cancer-Associated Retinopathy	Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Optic atrophy, V...	ORPHA:71505
Abetalipoproteinemia	Hypopigmentation of the fundus, Rod-cone dystrophy, Abnormality of retinal pigmentation	ORPHA:14
Mucopolysaccharidosis Type 2, Attenuated Form	Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Papi...	ORPHA:217093
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Spina bifida, Periventricular leukomalacia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of t...	ORPHA:508498
Congenital Disorder Of Deglycosylation 1	Impaired oropharyngeal swallow response, Central sleep apnea, Respiratory distress, Impaired oral...	OMIM:615273
Dubowitz Syndrome	Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils	ORPHA:235
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Truncal ataxia, Simplified gyral pattern, Ataxia, Dysmetria, Partial agenesis of the ...	OMIM:220111
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Abnormality of T cell physiology, Generalized lymphadenopat...	OMIM:181000
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumonia, Pulmo...	ORPHA:1329
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Microcephaly	ORPHA:264450
Smith-Lemli-Opitz Syndrome	Hypoplasia of the frontal lobes, Global brain atrophy, Hyperactivity, Death in infancy, Hydroceph...	OMIM:270400
Mucopolysaccharidosis Type 3	Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy	ORPHA:581
Chromosome 13Q14 Deletion Syndrome	Hypoplasia of the corpus callosum, Holoprosencephaly, Absent septum pellucidum, Agenesis of corpu...	OMIM:613884
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation	ORPHA:175
Cockayne Syndrome B	Abnormality of skin pigmentation, Optic atrophy, Abnormal peripheral myelination, Abnormal audito...	OMIM:133540
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypertonia	OMIM:619194
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatic steatosis, Acute pancreatitis, Elevated hemoglobin A1c, Hepatomegaly, Splenome...	OMIM:269700
Rodrigues Blindness	Nasal flaring	OMIM:268320
Lymphatic Malformation 7	Pleural effusion, Respiratory distress, Chylothorax	OMIM:617300
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Lateral ventricle dilatation, Respiratory distress, Attention deficit ...	ORPHA:177907
Bacterial Toxic-Shock Syndrome	Pneumonia, Sinusitis, Respiratory distress, Tachypnea	ORPHA:36234
Ethylene Glycol Poisoning	Cerebral edema, Abnormal pattern of respiration, Alcoholism, Episodic respiratory distress, Tachy...	ORPHA:31826
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Leukoencephalopathy, Respiratory distress, Apnea, Abnormal basal ganglia MRI signal intensity, Mi...	ORPHA:17
Rubinstein-Taybi Syndrome 1	Hyperactivity, Hyperintensity of cerebral white matter on MRI, Spina bifida, Respiratory distress...	OMIM:180849
Neurodegeneration With Brain Iron Accumulation 1	Retinal degeneration, Pigmentary retinopathy, Optic atrophy, Hyperpigmentation of the skin	OMIM:234200
Cardiomyopathy, Familial Hypertrophic, 4	Dyspnea, Respiratory distress	OMIM:115197
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Asthma, Communicating hydrocephalus, Epistaxis, Attention deficit hyperact...	OMIM:619841
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Agenesis of corpus callosum, Absent sep...	OMIM:236680
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Repeated pneumothoraces, Hydrocephalus, Respiratory distress, Restrict...	ORPHA:536467
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Respiratory failure, Dyspnea, Respiratory distress	ORPHA:3342
Farber Disease	Respiratory insufficiency, Respiratory distress	ORPHA:333
Holoprosencephaly 2	Cerebellar hypoplasia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly, ...	OMIM:157170
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Tuberous Sclerosis Complex	Hyperactivity, Noncommunicating hydrocephalus, Respiratory distress, Impulsivity, Cortical tubers...	ORPHA:805
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Tremor, Hypoplasia of the corpus callosum, Agenesis of...	ORPHA:506358
Coffin-Siris Syndrome 4	Dandy-Walker malformation, Agenesis of corpus callosum, Microcephaly	OMIM:614609
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Agitation, Pleural effusion, Epistaxis, Dyspnea, Cough, Respiratory failure...	ORPHA:340
Microgastria-Limb Reduction Defect Syndrome	Abnormal cortical gyration, Arrhinencephaly, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2538
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Macular edema, Choroidal neovascularization, Abnormality of retinal pigmenta...	ORPHA:91500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Holoprosencephaly 9	Abnormal cortical gyration, Hydrocephalus, Optic nerve hypoplasia, Holoprosencephaly, Partial age...	OMIM:610829
Listeriosis	Abnormal brainstem MRI signal intensity, Respiratory distress, Miscarriage, Respiratory failure, ...	ORPHA:533
Nocardiosis	Pneumothorax, Productive cough, Respiratory distress, Emphysema, Pleural effusion, Dyspnea, Respi...	ORPHA:31204
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Respiratory distress	OMIM:618188
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Degcags Syndrome	Pulmonary arterial hypertension, Rhinitis, Asthma, Choking episodes, Microcephaly, Tracheomalacia...	OMIM:619488
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida, Thin corpus callosum, Partial agenesis of the corpus callosum, Tethered cord	OMIM:619480
Monosomy 9P	Microcephaly, Agenesis of corpus callosum, Hypertonia	ORPHA:261112
Wiedemann-Rautenstrauch Syndrome	Spasticity, Limb hypertonia, Cerebellar hypoplasia, Truncal ataxia, Abnormal corpus striatum morp...	ORPHA:3455
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Glycogen Storage Disease Of Heart, Lethal Congenital	Pleural effusion, Hydrocephalus, Apnea, Respiratory distress	OMIM:261740
Campomelic Dysplasia	Tracheobronchomalacia, Spinal dysraphism, Spina bifida, Hydrocephalus, Respiratory distress, Apne...	OMIM:114290
Monosomy 22Q13.3	Impaired pain sensation, Cerebellar cortical atrophy, Agenesis of corpus callosum	ORPHA:48652
Meier-Gorlin Syndrome 1	Microcephaly, Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Wiedemann-Rautenstrauch Syndrome	Chiari malformation, Truncal ataxia, Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Inte...	OMIM:264090
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Cafe-au-lait spot	OMIM:251260
Lenz-Majewski Hyperostotic Dwarfism	Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Acrocallosal Syndrome	Aplasia/Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:200990
Ramos-Arroyo Syndrome	Respiratory distress, Primary microcephaly	ORPHA:1051
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Schinzel-Giedion Syndrome	Cerebral cortical atrophy, Neural tube defect, Respiratory distress, Recurrent pneumonia, Chiari ...	ORPHA:798
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Poor fine motor coordination, Spasticity, Inability to walk, Cerebellar hypoplasia, Lateral ventr...	ORPHA:261537
Blau Syndrome	Lymphadenopathy, Anemia, Abnormality of the liver, Splenomegaly	ORPHA:90340
Coccidioidomycosis	Pleural empyema, Hydrocephalus, Exudative pleural effusion, Respiratory distress, Cough, Eosinoph...	ORPHA:228123
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Shwachman-Diamond Syndrome 1	Neonatal respiratory distress, Respiratory distress	OMIM:260400
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Arrhinencephaly, Hy...	ORPHA:3472
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Baller-Gerold Syndrome	Chiari malformation, Hydrocephalus, Optic nerve hypoplasia, Spina bifida occulta, Obstructive sle...	OMIM:218600
Chromosome 1P36 Deletion Syndrome, Distal	Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Hydrocephalus, Poly...	OMIM:607872
Ear-Patella-Short Stature Syndrome	Respiratory failure, Dyspnea, Respiratory distress, Microcephaly	ORPHA:2554
Colchicine Poisoning	Cardiorespiratory arrest, Respiratory distress	ORPHA:31824
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Primary microcephaly, Respiratory distress, Microcephaly, Dysphag...	OMIM:616268
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Proteus Syndrome	Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Central heteroc...	ORPHA:744
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Cystinosis, Nephropathic	Hypopigmentation of the skin, Retinopathy, Retinal pigment epithelial mottling, Hypopigmentation ...	OMIM:219800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Abs...	ORPHA:2273
Wolf-Hirschhorn Syndrome	Periventricular cysts, Hydrocephalus, Tethered cord, Microcephaly, Absent septum pellucidum, Agen...	OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Poor fine motor coordination, Inability to walk, Lateral ventricle dilatation, Primary microcepha...	ORPHA:261552
1P36 Deletion Syndrome	Cerebral cortical atrophy, Hemiplegia/hemiparesis, Gait disturbance, Microcephaly, Agenesis of co...	ORPHA:1606
Ring Chromosome 13 Syndrome	Anencephaly, Microcephaly, Agenesis of corpus callosum	ORPHA:96176
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Diffuse leukoencephalopathy	OMIM:256810
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Respiratory distress	ORPHA:210122
Heterotaxy, Visceral, 1, X-Linked	Myelomeningocele, Aqueductal stenosis, Cerebellar hypoplasia, Hydrocephalus, Respiratory distress	OMIM:306955
Simpson-Golabi-Behmel Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Death in infancy	ORPHA:373
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Cleidocranial Dysplasia 1	Neonatal respiratory distress, Respiratory distress, Syringomyelia	OMIM:119600
Atypical Werner Syndrome	Patchy hypo- and hyperpigmentation, Premature graying of hair, Retinal degeneration, Abnormality ...	ORPHA:79474
Congenital Tracheal Stenosis	Respiratory distress, Upper airway obstruction, Dyspnea, Neonatal asphyxia, Wheezing	ORPHA:141127
Focal Dermal Hypoplasia	Myelomeningocele, Chiari malformation, Hydrocephalus, Spina bifida occulta, Microcephaly, Agenesi...	OMIM:305600
Coffin-Siris Syndrome 1	Gait ataxia, Spina bifida occulta, Partial agenesis of the corpus callosum, Microcephaly, Hypopla...	OMIM:135900
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:466943
8Q24.3 Microdeletion Syndrome	Global brain atrophy, Hyperactivity, Respiratory distress, Optic nerve hypoplasia, Spina bifida o...	ORPHA:508488
Gitelman Syndrome	Salt craving, Respiratory distress, Polydipsia, Cerebral calcification	ORPHA:358
Mowat-Wilson Syndrome	Spasticity, Inability to walk, Enlarged cerebellum, Polymicrogyria, Ataxia, Abnormal cerebral whi...	ORPHA:2152
Scimitar Syndrome	Pulmonary arterial hypertension, Pneumothorax, Respiratory distress, Cough	ORPHA:185
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Aplasia/Hypoplasia of the cerebellum, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno...	ORPHA:480880
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Holoprosencephaly, Absent septum pellucidum, Agene...	ORPHA:95494
Tropical Endomyocardial Fibrosis	Eosinophilia, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly	ORPHA:75565
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Respiratory distress, Dyspnea, Stridor, Respiratory failure, Pneumonia	ORPHA:79404
17Q11 Microdeletion Syndrome	Glomus jugular tumor, Breast carcinoma, Myelodysplasia, Atypical neurofibromatosis, Brainstem gli...	ORPHA:97685
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Genitopatellar Syndrome	Thin corpus callosum, Microcephaly, Pachygyria, Dysphagia, Agenesis of corpus callosum, Colpocephaly	OMIM:606170
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Rhinitis, Respiratory distress	OMIM:305100
Mowat-Wilson Syndrome	Aplasia/Hypoplasia of the cerebral white matter, Abnormal corpus callosum morphology, Microcephal...	OMIM:235730
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Rhinitis, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Chroni...	ORPHA:95455
Aortic Arch Interruption	Exertional dyspnea, Tachypnea, Respiratory distress	ORPHA:2299
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Respiratory insufficiency, Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hyp...	ORPHA:93271
Dermatomyositis	Lymphoma, Breast carcinoma, Lung adenocarcinoma, Neoplasm, Gastrointestinal stroma tumor	ORPHA:221
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Neonatal respiratory distress, Respiratory distress, Respiratory acidosis, Microcephaly	OMIM:614748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Microcephaly, Respiratory distress, Diffuse cerebral atrophy	ORPHA:83617
Stüve-Wiedemann Syndrome	Asthma, Apnea, Respiratory distress	ORPHA:3206
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Cerebellar dysplasia, Respiratory distress, Abnormal globus pallidus morphology, Abnormal septum ...	ORPHA:99646
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Cerebellar vermis hypo...	OMIM:312870
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Pigmentary retinopathy	OMIM:606721
Eisenmenger Syndrome	Pulmonary arterial hypertension, Exertional dyspnea, Hypoxemia, Respiratory distress, Increased p...	ORPHA:97214
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Hypoplasia of the frontal lobes, Aspiration pneumonia, Cerebella...	OMIM:216340
Peters-Plus Syndrome	Cerebral atrophy, Hydrocephalus, Microcephaly, Agenesis of corpus callosum	OMIM:261540
Townes-Brocks Syndrome	Chiari malformation, Agenesis of corpus callosum	ORPHA:857
Craniofacial Microsomia	Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum	OMIM:164210
Kallmann Syndrome	Tremor, Paraplegia, Gait disturbance, Ataxia	ORPHA:478
Leptospirosis	Pleural effusion, Cough, Respiratory distress	ORPHA:509
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Congenital Total Pulmonary Venous Return Anomaly	Pulmonary arterial hypertension, Exertional dyspnea, Apneic episodes in infancy, Respiratory dist...	ORPHA:99125
Ulbright-Hodes Syndrome	Respiratory failure, Pneumothorax, Respiratory distress	ORPHA:3404
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Respiratory distress, Cerebral calcification, Encephalomalacia	ORPHA:51608
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Pmm2-Cdg	Aspiration pneumonia, Cerebellar hypoplasia, Respiratory distress, Dandy-Walker malformation, Cer...	ORPHA:79318
Alström Syndrome	Pulmonary arterial hypertension, Recurrent sinusitis, Chronic pulmonary obstruction, Respiratory ...	ORPHA:64
Horizontal Gaze Palsy With Progressive Scoliosis		ORPHA:2744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dcc

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dcc.

No publications found that use IMPC mice or data for Dcc.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
Dcc^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Dcc^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dcc MGI:94869

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Immunophenotyping

X-ray

X-ray

X-ray

Embryo LacZ

MicroCT E14.5-E15.5

Immunophenotyping

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

Human diseases caused by Dcc mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 19.0 Data