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Gene: Ehmt1 MGI:1924933

Gene Summary

Name:

euchromatic histone methyltransferase 1

Synonyms:

KMT1D, 9230102N17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased circulating LDL cholesterol level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.82×10^-08
impaired pupillary reflex	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.46×10^-05
increased circulating cholesterol level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.70×10^-05
abnormal retina vasculature morphology	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.62×10^-07
irregularly shaped pupil	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.62×10^-05
decreased circulating serum albumin level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.75×10^-06
decreased locomotor activity	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.28×10^-09
increased lean body mass	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.75×10^-06
increased anxiety-related response	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.07×10^-05
increased mean platelet volume	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.84×10^-06
abnormal iris morphology	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.80×10^-05
increased thigmotaxis	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.93×10^-05
decreased blood urea nitrogen level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.96×10^-07
abnormal retina blood vessel morphology	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.16×10^-08
decreased exploration in new environment	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.70×10^-05
corneal opacity	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.09×10^-05
decreased circulating creatinine level	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.09×10^-05
abnormal optic disk morphology	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.62×10^-07
increased neutrophil cell number	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.75×10^-05
persistence of hyaloid vascular system	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.16×10^-08
increased grip strength	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.89×10^-06
abnormal behavior	Ehmt1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.97×10^-05
preweaning lethality, complete penetrance	Ehmt1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ehmt1 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 Ehmt1 (3 diseases)
Human diseases predicted to be associated with Ehmt1 (1418 diseases)

The table below shows human diseases associated to Ehmt1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Kleefstra Syndrome Due To 9Q34 Microdeletion	Echolalia, Apathy, Depression, Anxiety, Irritability, Agenesis of corpus callosum	ORPHA:96147
Kleefstra Syndrome 1	Tracheobronchomalacia, Mandibular prognathia, Natal tooth, Macroglossia, Everted lower lip vermil...	OMIM:610253
Kleefstra Syndrome Due To A Point Mutation	Short stature, Natal tooth, Thick lower lip vermilion, Tracheomalacia, Umbilical hernia, Abnormal...	ORPHA:261652

The table below shows human diseases predicted to be associated to Ehmt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Shuffling gait, Falls, Ine...	ORPHA:412066
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy, Psychomotor deterioration, Ataxia, Loss of ambulation, Vacuola...	OMIM:609055
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Gait ataxia, Cognitive impairment, Axonal degeneration, Truncal ataxia, Peripheral axonal degener...	OMIM:208920
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Craniosynostosis 3	Left unicoronal synostosis, Sagittal craniosynostosis, Dental malocclusion, Right unicoronal syno...	OMIM:615314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Peripheral axonal neuropathy, Steppage gait, Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Optic Atrophy 2	Tremor, Optic atrophy, Dysdiadochokinesis	OMIM:311050
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Rubinstein-Taybi Syndrome 2	Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, Prominent nose, Hyperactivity,...	OMIM:613684
Ceroid Lipofuscinosis, Neuronal, 3	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Psychomotor deteri...	OMIM:204200
Mulibrey Nanism	Wide nose, Dental malocclusion, Enamel hypoplasia, Wide nasal bridge, Short stature, Hypoplastic ...	OMIM:253250
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst, Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Inappropriate behavior, Cognitive impairment, Ataxia, Tremor, Dystonia, Depression, Anxiety, Memo...	ORPHA:401901
Huntington Disease-Like 2	Inertia, Anxiety, Apathy, Dementia, Dystonia, Action tremor, Depression, Subcortical dementia, Ir...	OMIM:606438
Lethal Osteosclerotic Bone Dysplasia	Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna...	ORPHA:1832
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Optic atrophy, Gait disturbance, Developmental cataract, Ataxia, Corneal dystrophy	ORPHA:2572
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Hyperactivity, Prominent nose, Short stature	OMIM:615541
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole...	OMIM:619868
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia	OMIM:144300
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Sitosterolemia 1	Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Corneal arcus, Anemia, Giant pla...	OMIM:210250
Ribose 5-Phosphate Isomerase Deficiency	Increased level of D-threitol in plasma, Optic atrophy, Elevated circulating ribitol concentratio...	OMIM:608611
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia	ORPHA:94124
Optic Atrophy 3, Autosomal Dominant	Cataract, Tremor, Optic atrophy, Optic disc pallor	OMIM:165300
Pycnodysostosis	Delayed cranial suture closure, Convex nasal ridge, Increased bone mineral density, Micrognathia,...	ORPHA:763
Galactosialidosis	Corneal opacity, Cherry red spot of the macula	ORPHA:351
Alg6-Cdg	Rod-cone dystrophy, Decreased LDL cholesterol concentration, Retinal degeneration, Ataxia, Failur...	ORPHA:79320
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Dental malocclusion, Mandibular prognathia, High palate, Short stature, ...	ORPHA:1327
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma, Ataxia	ORPHA:2732
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma	OMIM:616428
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy, Spastic ataxia, Dysdiadochokinesis	OMIM:108650
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Underdeveloped nasal alae, Dental malocclusion, Short stature, Widely spaced teeth, Malar flattening	OMIM:616108
Mcdonough Syndrome	Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Short stat...	ORPHA:2471
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration, Decreased nerve co...	ORPHA:101082
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath...	OMIM:614669
Norrie Disease	Retinal fold, Aggressive behavior, Optic atrophy, Leukocoria, Hypoplasia of the iris, Dementia, R...	OMIM:310600
Basal Ganglia Calcification, Idiopathic, 5	Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis	OMIM:615483
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col...	ORPHA:1473
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Dental malocclusion, Mandibular prognathia, High palate, Dysphagia, Arthrogryposis multiplex cong...	OMIM:608931
Wolfram-Like Syndrome, Autosomal Dominant	Depression, Optic disc pallor, Optic atrophy, Anxiety	OMIM:614296
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Mandibular prognathia, High palate, Anteverted nares, Mild short stature	OMIM:618292
Seckel Syndrome 1	Dental malocclusion, Enamel hypoplasia, Convex nasal ridge, Prominent nose, Hyperactivity, High p...	OMIM:210600
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy	ORPHA:3177
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depression, ...	OMIM:604326
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Irritabi...	OMIM:267700
Spasticity, Childhood-Onset, With Hyperglycinemia	Gait disturbance, Hyperglycinemia, Spastic ataxia, Optic atrophy	OMIM:616859
Myh9-Related Disease	Presenile cataracts, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, I...	ORPHA:182050
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cognitive impairment, Optic atrophy, Dementia, Ataxia, Sensory axonal neuropathy, Cataract, Depre...	ORPHA:329314
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Dementia, Depression, Anxiety, Dystonia, Bradykinesia	OMIM:605909
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short columella, Depressed nasal bridge, Short nose	OMIM:155050
Leber Hereditary Optic Neuropathy, Modifier Of	Leber optic atrophy, Optic atrophy	OMIM:308905
Cataract 21, Multiple Types	Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,...	OMIM:610202
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Difficulty walking, Optic atrophy	OMIM:617087
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o...	OMIM:617319
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Failure to thrive in infancy, Broad-based gait, Microcytic anemia, Hypoalbuminemia	OMIM:618805
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Anxiety, Apathy, Tremor, Dystonia, Depression, Mental deterioration, Memory impairment, Br...	ORPHA:240085
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat...	ORPHA:199306
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Cognitive impairment, Inertia, Optic atrophy, Limb dystonia, Gait disturbance, Emoti...	ORPHA:216873
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
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Thickened cortex...	OMIM:144750
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
Ceroid Lipofuscinosis, Neuronal, 11	Retinal dystrophy, Optic atrophy, Ataxia, Mental deterioration	OMIM:614706
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Ataxia-Oculomotor Apraxia 4	Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypercholeste...	OMIM:616267
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Progressive neurologic deterioration, Opaci...	OMIM:252650
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Citrullinemia Type Ii	Hypertriglyceridemia, Aggressive behavior, Irritability, Acute hyperammonemia, Tremor, Hypoprotei...	ORPHA:247585
Potocki-Lupski Syndrome	Dental malocclusion, Hyperactivity, Mandibular prognathia, High palate, Short stature, Wide mouth...	OMIM:610883
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Retinal degeneration, Macular degeneration, Psychomotor deterioration, Ataxia, Dep...	OMIM:256730
Stickler Syndrome Type 2	Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90654
Lowry-Maclean Syndrome	Convex nasal ridge, Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growt...	OMIM:600252
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Moderately short stature, Dental malocclusion, High palate, Joint contra...	OMIM:612350
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Mandibular prognathia, Short stature, Abnormality of the dentition	ORPHA:1858
Epilepsy, Progressive Myoclonic, 12	Anxiety, Ataxia, Dysmetria, Difficulty walking, Depression, Mental deterioration	OMIM:619191
Birdshot Chorioretinopathy	Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular...	ORPHA:179
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Increased circulating...	OMIM:616050
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Congenital hip dislocation...	OMIM:619719
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Alpha-Mannosidosis	Dental malocclusion, Mandibular prognathia, Narrow palate, Widely spaced teeth, Arthritis, Cranio...	ORPHA:61
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T...	OMIM:226990
Isolated Optic Nerve Hypoplasia/Aplasia	Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,...	ORPHA:137902
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Gait ataxia, Inappropriate crying, Inappropriate laughter, Optic atrophy	OMIM:619323
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
Leber Congenital Amaurosis 2	Attenuation of retinal blood vessels, Cataract, Eye poking, Keratoconus, Fundus atrophy, Optic di...	OMIM:204100
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Blepharophimosis-Impaired Intellectual Development Syndrome	Underdeveloped nasal alae, Wide nose, Dental malocclusion, Flexion contracture, Enamel hypoplasia...	OMIM:619293
Cherubism	Macular scar, Optic neuropathy, Marcus Gunn pupil	OMIM:118400
Intermediate Osteopetrosis	Increased susceptibility to fractures, Dental malocclusion, Osteomyelitis, Recurrent fractures, A...	ORPHA:210110
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Attenuation of retinal blood vessels, Optic atrophy	OMIM:165510
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Gait imbalance, Postural tremor, Choreoathetosis, Ataxia, Elevated circulating creatine kinase co...	ORPHA:64753
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Underdeveloped nasal alae, Dental malocclusion, Short stature, Micrognathia, Diastema, Broad colu...	ORPHA:436245
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Immunodeficiency 27A	Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegal...	OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Irritability, Ataxia, Hepatosplenomegaly, Pancytop...	OMIM:603553
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Hemifacial Atrophy, Progressive	Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ...	OMIM:187800
Oculodentodigital Dysplasia, Autosomal Recessive	Underdeveloped nasal alae, Dental malocclusion, Macrodontia of permanent maxillary central inciso...	OMIM:257850
Corneal Dystrophy, Endothelial, X-Linked	Corneal dystrophy, Corneal opacity, Band keratopathy	OMIM:300779
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, High, narrow palate, Joint laxity	OMIM:619692
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu...	OMIM:613752
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal fold, Aggressive behavior, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opa...	OMIM:152950
Three M Syndrome 2	Dental malocclusion, High palate, Long philtrum, Short stature, Delayed eruption of teeth, Promin...	OMIM:612921
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp...	OMIM:246700
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Corneal opacity	ORPHA:1980
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Ankylosis, Nar...	OMIM:602483
Progressive Supranuclear Palsy	Blepharospasm, Cognitive impairment, Falls, Delayed speech and language development, Dementia, Ab...	ORPHA:683
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Muenke Syndrome	Dental malocclusion, High palate, Capitate-hamate fusion, Coronal craniosynostosis, Attention def...	OMIM:602849
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Alexander Disease	Dysmetria, Apathy, Ataxia, Microcoria	OMIM:203450
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Corneal opacity, Microcornea	ORPHA:2432
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Childhood Disintegrative Disorder	Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Impaired social...	ORPHA:168782
Morbid Obesity And Spermatogenic Failure	Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc...	OMIM:615703
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill...	OMIM:309300
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Abetalipoproteinemia	Keratoconjunctivitis sicca, Reticulocytosis, Hypopigmentation of the fundus, Steppage gait, Hypoc...	ORPHA:14
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Cognitive impairment, Suicidal ideation, Action tremor, Depression, Hypercholester...	ORPHA:77296
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Convex nasal ridge, Abnormality of upper lip vermillion, Micrognathia, Microdontia, Cleft palate,...	ORPHA:251028
Larsen-Like Syndrome	Dental malocclusion, Joint dislocation, Wide anterior fontanel, Short stature, Absent nasal bridg...	OMIM:608545
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Cln3 Disease	Aggressive behavior, Memory impairment, Shuffling gait, Optic atrophy, Vacuolated lymphocytes, At...	ORPHA:228346
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ...	OMIM:308240
Early-Onset X-Linked Optic Atrophy	Gait ataxia, Optic atrophy, Dysdiadochokinesis, Choreoathetosis, Emotional lability, Decreased ne...	ORPHA:98890
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Osteogenesis Imperfecta, Type Xxii	Thin bony cortex, Dentinogenesis imperfecta, Recurrent fractures, Short stature, Multiple prenata...	OMIM:619795
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ...	OMIM:616221
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Leishmaniasis	Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ...	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper...	OMIM:616829
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate...	OMIM:169400
Lessel-Kreienkamp Syndrome	Dental malocclusion, Wide nasal bridge, Wide cranial sutures, Thin upper lip vermilion, Attention...	OMIM:619149
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Ataxia, Peripheral axonal neuropathy, Difficulty walking, Depression, Anxiety	OMIM:619425
Galloway-Mowat Syndrome 6	Paroxysmal bursts of laughter, Decreased body weight, Hypoalbuminemia	OMIM:618347
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating...	ORPHA:247598
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Congenital Enterovirus Infection	Leukopenia, Anemia, Neutropenia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Th...	ORPHA:292
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Galactokinase Deficiency	Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Psychomoto...	ORPHA:79237
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Cognitive impairment, Ataxia, Abnormality of retinal pigmentation	ORPHA:2246
Gómez-López-Hernández Syndrome	Cognitive impairment, Corneal opacity, Ataxia	ORPHA:1532
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Cognitive impairment, Shuffling gait, Optic atrophy, Ataxia, Elevate...	ORPHA:254886
Aicardi-Goutieres Syndrome 9	Anemia, Hemolytic anemia, Optic atrophy, Weight loss, Hepatosplenomegaly, Failure to thrive, Chor...	OMIM:619487
Cog4-Cdg	Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability, Failure to thri...	ORPHA:263501
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Hypoalbuminemia	ORPHA:88643
Spastic Paraplegia 5A, Autosomal Recessive	Cognitive impairment, Postural tremor, Optic atrophy, Spastic gait, Abnormal circulating choleste...	OMIM:270800
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe...	OMIM:225200
Alpha-Mannosidosis, Adult Form	Ataxia, Hepatosplenomegaly, Pancytopenia, Cataract, Corneal opacity, Depression, Anxiety, Optic d...	ORPHA:309288
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Bernard-Soulier Syndrome	Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ...	OMIM:231200
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Metopic suture patent to nasal root, Convex nasal ridge, High palate, Broad secondary alveolar ri...	ORPHA:3369
Myopathy, Myofibrillar, 8	Dental malocclusion, High palate, Micrognathia, Achilles tendon contracture, Joint hypermobility,...	OMIM:617258
Kabuki Syndrome 2	Dental malocclusion, High palate, Lower lip pit, Short stature, Natal tooth, Micrognathia, Hypodo...	OMIM:300867
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Short stature, Abnormal cortical bone morphology, Limitation of joint ...	ORPHA:166277
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Akinesia, Anxiety, Delayed speech and language development, Dementia, Absent...	OMIM:300894
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Anemia, Optic atrophy, Inability to walk, Thrombocytopenia, Neutropenia...	OMIM:617303
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Optic atrophy, Ataxia, Mental deterioration, Pigmentary retinopathy	OMIM:610951
Sarcosinemia	Optic atrophy, Emotional lability, Ataxia, Hypersarcosinuria, Hypersarcosinemia	ORPHA:3129
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Ivory epiphyses of the distal phalanges of the hand, Narrow palate, Long phi...	OMIM:190350
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Smith-Magenis Syndrome	Head-banging, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Self-mutilation, In...	OMIM:182290
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel...	OMIM:618386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Coloboma, Elevated circulating creatine kinase concentration, Cataract, Corneal opacity, Retinal ...	OMIM:613153
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi...	OMIM:613849
Cerebral Creatine Deficiency Syndrome 2	Aggressive behavior, Decreased serum creatinine, Elevated circulating guanidinoacetic acid concen...	OMIM:612736
Harel-Yoon Syndrome	Optic atrophy, Inability to walk, Developmental cataract, Ataxia, Peripheral axonal neuropathy, C...	OMIM:617183
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra...	ORPHA:158061
Spinocerebellar Ataxia, Autosomal Recessive 12	Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia	OMIM:614322
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Short st...	OMIM:610967
Robinow Syndrome, Autosomal Dominant 2	Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Short stature, Long philtrum, M...	OMIM:616331
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Acrootoocular Syndrome	Dental malocclusion, Short stature, Delayed eruption of teeth, Grayish enamel, Micrognathia, Chok...	ORPHA:2980
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cog...	ORPHA:309246
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Grant Syndrome	Joint dislocation, Short stature, Micrognathia, Abnormal cortical bone morphology, Depressed nasa...	ORPHA:2097
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ...	ORPHA:86839
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Mandibular prognathia, Short stature, Delayed eruption of teeth, Hypodontia,...	OMIM:101800
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Optic disc pallor, Ataxia, Anxiety	OMIM:618970
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Mandibular prognathia, High palate, Short stature, Wide nasal bridge, Abnorm...	ORPHA:3079
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Nestor-Guillermo Progeria Syndrome	Dental malocclusion, Delayed closure of the anterior fontanelle, Flexion contracture, Convex nasa...	OMIM:614008
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Intellectual Developmental Disorder, Autosomal Recessive 54	Delayed speech and language development, Exaggerated startle response, Emotional lability	OMIM:617028
Spinocerebellar Ataxia, Autosomal Recessive 29	Inability to walk, Optic disc pallor, Retinal pigment epithelial mottling, Ataxia, Peripheral axo...	OMIM:619389
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Smith-Magenis Syndrome	Self-injurious behavior, Anxiety, Gait disturbance, Obesity, Microcornea, Hypercholesterolemia, R...	ORPHA:819
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets	ORPHA:238459
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr...	OMIM:609260
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph...	OMIM:221900
Eosinophilic Gastroenteritis	Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Eosinoph...	ORPHA:2070
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Wide nasal bridge, Delayed eruption of teeth,...	OMIM:305620
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ...	OMIM:305390
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Riboflavin Transporter Deficiency	Aggressive behavior, Iris hypopigmentation, Abnormal autonomic nervous system physiology, Cachexi...	ORPHA:97229
Persistent Hyperplastic Primary Vitreous	Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Macular hypoplasia, L...	ORPHA:91495
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat...	OMIM:616828
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A...	ORPHA:54
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru...	ORPHA:2863
Congenital Rubella Syndrome	Anemia, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal op...	ORPHA:290
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Optic atrophy, Chorioretinal hyperpigmentation, Failure to thrive, Progressive n...	OMIM:618329
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp...	OMIM:301200
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Cognitive impairment, Macular edema, Normocytic anemia, Apathy, Retinal cotton wool spot, Retinal...	ORPHA:247691
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Failure to thrive, Elevated circulating creatinine concentration, Thrombocytopenia, Hypoa...	OMIM:608104
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	High palate, Pierre-Robin sequence, Short stature, Long philtrum, Short nose, Spina bifida occult...	OMIM:617877
Xfe Progeroid Syndrome	Optic atrophy, Corneal scarring, Cachexia, Attenuation of retinal blood vessels, Failure to thriv...	OMIM:610965
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst...	OMIM:217800
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Familial Dysautonomia	Abnormal pupil morphology, Corneal erosion, Optic atrophy, Gait disturbance, Ataxia, Heterochromi...	ORPHA:1764
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Corneal opacity, Ectopia lentis	OMIM:613086
Phacoanaphylactic Uveitis	Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn...	ORPHA:209959
Eales Disease	Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin...	ORPHA:40923
Autosomal Recessive Kenny-Caffey Syndrome	Delayed cranial suture closure, Calvarial osteosclerosis, Cortical thickening of long bone diaphy...	ORPHA:93324
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Tremor, Broad-based gait, Optic atrophy	OMIM:619470
Harrod Syndrome	Dental malocclusion, High palate, Narrow mouth, Joint hyperflexibility, Long nose, Intrauterine g...	ORPHA:2115
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa...	OMIM:617443
Fanconi Anemia, Complementation Group S	Underdeveloped nasal alae, Dental malocclusion, Thick upper lip vermilion, Narrow palate, Short s...	OMIM:617883
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Van Maldergem Syndrome 1	Irregular dentition, Dental malocclusion, High palate, Wide anterior fontanel, Wide nasal bridge,...	OMIM:601390
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased body weight, Corneal erosion, Decreased plasma carnitine, Decreased serum iron,...	ORPHA:89842
Glaucoma 3, Primary Congenital, E	Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio	OMIM:617272
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Optic atrophy, Increased mean platelet volume, Ataxia	OMIM:616737
Spastic Ataxia 4, Autosomal Recessive	Gait ataxia, Spastic ataxia, Optic atrophy, Limb ataxia, Emotional lability	OMIM:613672
Leber Congenital Amaurosis 19	Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:618513
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal blood vessels, Keratoconus, Opti...	OMIM:604393
Winchester Syndrome	Corneal opacity	OMIM:277950
Refractory Celiac Disease	Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio...	ORPHA:398063
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
Merrf	Optic atrophy, Cognitive impairment, Ataxia	ORPHA:551
2Q24 Microdeletion Syndrome	Coloboma, Small for gestational age, Failure to thrive, Cataract, Abnormality iris morphology	ORPHA:1617
Salt And Pepper Developmental Regression Syndrome	Failure to thrive, Choreoathetosis, Irritability, Optic atrophy	OMIM:609056
Sialidosis Type 2	Abnormal macular morphology, Ataxia, Tremor, Corneal opacity, Splenomegaly	ORPHA:87876
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Exudative retinopathy, Loss of ambulation, Corneal opacity, Retinal ...	ORPHA:2788
Intellectual Developmental Disorder, X-Linked 104	Aggressive behavior, Tremor, Optic atrophy, Ataxia	OMIM:300983
Ataxia With Vitamin E Deficiency	Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Gait disturbance, Ata...	OMIM:277460
Wolfram-Like Syndrome	Optic atrophy, Dementia, Peripheral axonal neuropathy, Depression, Anxiety, Progressive cerebella...	ORPHA:411590
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Thin vermilion border, Propo...	OMIM:234100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c...	OMIM:242150
Zimmermann-Laband Syndrome	Wide nose, High palate, Wide mouth, Micrognathia, Hypodontia, Bifid uvula, Gingival fibromatosis,...	ORPHA:3473
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Neutropenia, Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Thrombocy...	ORPHA:79312
Nephrotic Syndrome, Type 14	Lymphopenia, Ataxia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Dental malocclusion, Short stature, Wide nasal bridge, Thick lower lip vermilion, Micrognathia, W...	ORPHA:85321
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten...	OMIM:616188
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Dentinogenesis...	OMIM:604922
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Cognitive impairment, Optic atrophy, Dystonia, Ataxia	ORPHA:1171
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor	OMIM:616171
Hsd10 Mitochondrial Disease	Aggressive behavior, Optic atrophy, Retinal degeneration, Choreoathetosis, Elevated circulating t...	OMIM:300438
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration	OMIM:614025
Lathosterolosis	Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopoikilocytosis, Hepatosp...	OMIM:607330
Growth Hormone Insensitivity Syndrome	Failure to thrive, Truncal obesity, Hypercholesterolemia	ORPHA:181393
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma...	OMIM:270200
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta...	OMIM:133780
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Short Syndrome	Underdeveloped nasal alae, Dental malocclusion, Wide nasal bridge, Birth length less than 3rd per...	OMIM:269880
Aniridia 1	Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Corneal n...	OMIM:106210
Wolcott-Rallison Syndrome	Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hyp...	ORPHA:1667
Sialidosis Type 1	Aminoaciduria, Retinopathy, Gait disturbance, Ataxia, Cataract, Tremor, Decreased nerve conductio...	ORPHA:812
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Peroxisome Biogenesis Disorder 8B	Gait ataxia, Tip-toe gait, Optic atrophy, Elevated circulating phytanic acid concentration, Retin...	OMIM:614877
Pycnodysostosis	Prominent nose, Delayed eruption of primary teeth, Short stature, Narrow palate, Increased bone m...	OMIM:265800
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract, Ataxia	OMIM:616732
Coach Syndrome 2	Elevated circulating creatinine concentration, Coloboma, Chorioretinal coloboma	OMIM:619111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Neutropenia, Optic atrophy, Choreoathetosis, Hyperammonemia, Thrombocytopenia, Lethargy, ...	ORPHA:289916
Leber Hereditary Optic Neuropathy	Postural tremor, Optic atrophy, Retinal vascular tortuosity, Ataxia, Retinal telangiectasia	ORPHA:104
Uveal Melanoma	Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili...	ORPHA:39044
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Early-Onset Schizophrenia	Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,...	ORPHA:96369
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor	OMIM:609021
Hepatoportal Sclerosis	Leukopenia, Anemia, Cognitive impairment, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Sp...	ORPHA:64743
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Splenomegaly, Cognitive impairment, Abnormality of iron homeostasis, Small fo...	OMIM:222470
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Short statur...	OMIM:269300
Momo Syndrome	Thick upper lip vermilion, Dental malocclusion, Abnormal bone ossification, High palate, Short st...	ORPHA:2563
Immunodeficiency 43	Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci...	OMIM:241600
Retinitis Pigmentosa 71	Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h...	OMIM:616394
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Galloway-Mowat Syndrome 1	Optic atrophy, Small for gestational age, Hypoplasia of the iris, Ataxia, Cataract, Opacification...	OMIM:251300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Joint stiffness, Rhizomelia, Postnatal growth retardation	OMIM:608940
Dentinogenesis Imperfecta	Yellow-brown discoloration of the teeth, Abnormal dental root morphology, Finger joint hypermobil...	ORPHA:49042
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Optic atrophy, Retinal dystrophy, Microcornea...	ORPHA:899
Beta-Propeller Protein-Associated Neurodegeneration	Aggressive behavior, Optic atrophy, Abnormal autonomic nervous system physiology, Dementia, Tremo...	ORPHA:329284
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormalit...	ORPHA:85167
Van Maldergem Syndrome 2	Hip subluxation, Dental malocclusion, Irregular dentition, High palate, Wide anterior fontanel, W...	OMIM:615546
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border	OMIM:601957
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys...	OMIM:251270
Apert Syndrome	Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Bifid uvula, ...	OMIM:101200
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Short stature, Micrognathia, Osteopenia, Intrauterine growth retardation, Postnata...	OMIM:608747
Striatonigral Degeneration, Infantile	Failure to thrive, Choreoathetosis, Dystonia, Optic atrophy	OMIM:271930
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Postural tremor, Thrombocytopenia, Action tremor, Mental deterioration, Unsteady gai...	OMIM:254900
Congenital Disorder Of Glycosylation, Type Ia	Rod-cone dystrophy, Ataxia, Steatorrhea, Failure to thrive, Dysmetria, Tremor, Thrombocytosis, Hy...	OMIM:212065
Leigh Syndrome With Leukodystrophy	Anemia, Optic atrophy, Emotional lability, Failure to thrive, Progressive cerebellar ataxia, Dyst...	ORPHA:255241
Narp Syndrome	Rod-cone dystrophy, Progressive gait ataxia, Retinal pigment epithelial mottling, Retinal arterio...	ORPHA:644
Mucolipidosis Type Iii	Cognitive impairment, Corneal opacity	ORPHA:577
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Ir...	ORPHA:231736
Autosomal Dominant Keratitis	Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co...	ORPHA:2334
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Tremor, Hypocystinemia	OMIM:617744
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop...	ORPHA:540
Wilson Disease	Aminoaciduria, Anemia, Hemolytic anemia, Limb dystonia, Decreased circulating ceruloplasmin conce...	OMIM:277900
Childhood-Onset Spasticity With Hyperglycinemia	Cognitive impairment, Optic atrophy, Loss of ability to walk in early childhood, Ataxia, Unsteady...	ORPHA:401866
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Gait ataxia, Optic atrophy, Spastic gait, Optic nerve hypoplasia, Cataract, Peripheral axonal neu...	ORPHA:496790
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Dysmetria, Tremor, Mental deterioration, Progressive cerebel...	OMIM:164500
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Micrognathia, Dysplastic patella...	OMIM:265000
Lowry-Maclean Syndrome	Retrognathia, Talon cusp, Convex nasal ridge, Short nasal bridge, Delayed eruption of primary tee...	ORPHA:2409
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Cach Syndrome	Cognitive impairment, Optic atrophy, Truncal ataxia, Apathy, Limb ataxia, Hepatosplenomegaly, Opt...	ORPHA:135
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We...	ORPHA:103910
Trichinellosis	Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Memory impairment, Apathy, ...	ORPHA:863
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Absent foveal reflex, Optic disc pallor...	OMIM:300476
3-Methylglutaconic Aciduria, Type I	Cognitive impairment, Optic atrophy, Dementia, Ataxia, Failure to thrive, Athetosis, Dystonia, Se...	OMIM:250950
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Optic atrophy, Failure to thrive, Lethargy, Dys...	ORPHA:26792
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Multip...	OMIM:259440
Acute Bilirubin Encephalopathy	Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti...	ORPHA:529808
Cri-Du-Chat Syndrome	Hyperactivity, High palate, Wide nasal bridge, Thick lower lip vermilion, Bifid uvula, Short phil...	OMIM:123450
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration, ...	OMIM:617872
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Keratoendotheliitis Fugax Hereditaria	Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia, Epiretinal membrane	OMIM:148200
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra...	OMIM:102500
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Inability to walk, Motor axonal neuropathy, Sensory axonal neuropathy, Decreased n...	ORPHA:457205
Severe Canavan Disease	Optic atrophy, Lethargy, Irritability, Inability to walk	ORPHA:314911
Spastic Paraplegia 75, Autosomal Recessive	Cognitive impairment, Optic atrophy, Spastic gait, Astigmatism, Dysmetria, Loss of ambulation	OMIM:616680
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk	ORPHA:431329
Oliver Syndrome	Camptodactyly of finger, Dental malocclusion, Knee flexion contracture, Mandibular prognathia, Hi...	ORPHA:2920
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Lattice Corneal Dystrophy Type I	Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys...	ORPHA:98964
Hamamy Syndrome	Neck pterygia, Dental malocclusion, Enamel hypoplasia, High palate, Recurrent fractures, Wide nas...	OMIM:611174
Coloboma, Ocular, Autosomal Dominant	Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma...	OMIM:120200
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Bowing of limbs due to multiple fractures, Multiple prenatal fractures, Disproportionate short-li...	OMIM:259410
Tubulointerstitial Nephritis With Uveitis	Non-caseating epithelioid cell granulomatosis, Uveitis, Elevated circulating creatinine concentra...	OMIM:607665
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis	OMIM:251750
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly	OMIM:612526
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis	ORPHA:54057
Tay-Sachs Disease	Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia	OMIM:272800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Tracheobronchomalacia, Misalignment of incisors, Pierre-Robin sequence, Thick ...	OMIM:619184
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Emotional lability, Difficulty walking, Anxiety, Agoraphobia	ORPHA:3198
Avian Influenza	Conjunctivitis, Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elev...	ORPHA:454836
Proteus-Like Syndrome	Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Retinal detachment, Th...	ORPHA:2969
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures, Wormian bones	ORPHA:2773
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Megalocornea-Intellectual Disability Syndrome	Megalocornea, Hypoplasia of the iris, Ataxia, Astigmatism, Hypercholesterolemia, Iridodonesis, Ab...	ORPHA:2479
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Optic atrophy, Gait disturbance, Ataxia, Retrobulbar optic neuritis, Abnormal leukocyte morphology	ORPHA:3151
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Lethargy, Coloboma, Optic atrophy	OMIM:274270
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Young-Onset Parkinson Disease	Cognitive impairment, Gait imbalance, Frontal lobe dementia, Impaired social interactions, Apathy...	ORPHA:2828
Hao-Fountain Syndrome	Delayed cranial suture closure, Large fontanelles	OMIM:616863
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Cognitive impairment, Ataxia	OMIM:258501
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus	ORPHA:945
Scheie Syndrome	Retinal degeneration, Corneal opacity	OMIM:607016
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis, Motor axonal neuropathy, Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnorma...	ORPHA:247815
Morquio Syndrome C	Corneal opacity	OMIM:252300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Contractures of the large joints, High palate, Deep philtrum, Micrognathia, ...	ORPHA:329178
Au-Kline Syndrome	Underdeveloped nasal alae, Sagittal craniosynostosis, Dental malocclusion, Retrognathia, Bifid to...	OMIM:616580
Osteopetrosis, Autosomal Recessive 5	Anemia, Mydriasis, Optic atrophy, Hyperbilirubinemia, Irritability, Pancytopenia, Hepatosplenomeg...	OMIM:259720
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Short stature, Delayed eruption of teeth, Micrognathia, Severe intrauterine growth...	ORPHA:73272
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked potential...	ORPHA:98755
Beaulieu-Boycott-Innes Syndrome	Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Long nose, Carious teeth, Low ha...	OMIM:613680
Hec Syndrome	Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology	ORPHA:2119
Leber Optic Atrophy And Dystonia	Optic atrophy, Leber optic atrophy, Dementia, Athetosis, Dystonia, Bradykinesia	OMIM:500001
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Optic atrophy, Choreoathetosis, Ataxia, Hyperammonemia, Macrocytic anemia, Th...	ORPHA:27
Auriculocondylar Syndrome	Dental malocclusion, Difficulty in tongue movements, Mandibular condyle hypoplasia, Micrognathia,...	ORPHA:137888
C3 Glomerulopathy	Yellow/white lesions of the retina, Central serous chorioretinopathy, Drusen, Elevated circulatin...	ORPHA:329918
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive gait ataxia, Progressive cerebellar ataxia, Emotional lability, Optic atrophy	ORPHA:254343
Progeria-Short Stature-Pigmented Nevi Syndrome	Dental malocclusion, Multiple joint contractures, Short stature, Selective tooth agenesis, Microg...	ORPHA:2959
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Motor axonal neuropathy, Abnormal autonomic nervous syste...	OMIM:231550
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Mitochondrial Complex I Deficiency, Nuclear Type 15	Failure to thrive, Irritability, Dystonia, Optic atrophy	OMIM:618237
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Depression, Astigmatism, Optic atrophy	OMIM:248000
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Elevated circulating creatine kina...	ORPHA:370959
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Exudative vitreoretinopathy, Aggressive behavior, Optic atrophy, Small for gestational age, Self-...	OMIM:615075
Congenital Analbuminemia	Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes...	ORPHA:86816
Nephrotic Syndrome, Type 1	Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Irritability, Hypoalbuminemia	OMIM:613070
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Dental malocclusion, High palate, Wide anterior fontanel, Wide mo...	OMIM:249420
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein...	ORPHA:90362
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Leukodystrophy, Hypomyelinating, 21	Optic atrophy, Ataxia, Failure to thrive, Mental deterioration, Athetosis, Dystonia	OMIM:619310
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones	ORPHA:2787
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract	OMIM:619649
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Bradykinesia, Hemidystonia, Spastic gait	OMIM:619052
Juvenile Sialidosis Type 2	Optic atrophy, Ataxia, Hepatosplenomegaly, Dysmetria, Loss of ambulation, Cataract, Corneal opaci...	ORPHA:93399
Thiel-Behnke Corneal Dystrophy	Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor...	ORPHA:98960
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi...	OMIM:609049
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Gait disturbance, Emotional lability, Unsteady gait, Lethargy, Memory impairment	OMIM:603896
Usher Syndrome, Type Iiib	Truncal ataxia, Optic disc pallor, Ataxia	OMIM:614504
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia, Optic atrophy, Small for gestational age, Loss of ambulation, Hyperammonemia, Progre...	OMIM:618253
Coffin-Siris Syndrome 6	Retrognathia, Short stature, Deep philtrum, Micrognathia, Short philtrum, Depressed nasal bridge,...	OMIM:617808
Dysostosis, Stanescu Type	Convex nasal ridge, Short stature, Massively thickened long bone cortices, Abnormal nasal morphol...	ORPHA:1798
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Dental malocclusion, Thick upper lip vermilion, Velopharyngeal insufficiency, Campt...	ORPHA:363444
Norrie Disease	Abnormal pupil morphology, Self-injurious behavior, Optic atrophy, Hypoplasia of the iris, Anteri...	ORPHA:649
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia	OMIM:271310
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,...	OMIM:207750
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Wide nasal bridge, Microg...	OMIM:300373
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Recurrent fractures, Short stature, Coronal craniosynosto...	OMIM:616294
Muscle-Eye-Brain Disease	Cognitive impairment, Optic atrophy, Gait disturbance, Elevated circulating creatine kinase conce...	ORPHA:588
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Conjunctivitis, Leukopenia, Anemia, Optic atrophy, Inability to walk, Abnormality of retinal pigm...	ORPHA:505248
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Mucolipidosis Type Iv	Retinopathy, Gait disturbance, Ataxia, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Lcat Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating...	ORPHA:650
Short Syndrome	Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir...	ORPHA:3163
Schwartz-Jampel Syndrome	Wrist flexion contracture, Increased bone mineral density, Micrognathia, Elbow dislocation, Evert...	ORPHA:800
Cystinosis	Aminoaciduria, Retinopathy, Hypokalemia, Hypophosphatemia, Gait disturbance, Failure to thrive, C...	ORPHA:213
Juvenile Neuronal Ceroid Lipofuscinosis	Cognitive impairment, Motor deterioration, Retinal degeneration, Dementia, Emotional lability, Lo...	ORPHA:79264
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, P...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, P...	ORPHA:352665
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Gait disturbance, Segmental peripheral d...	OMIM:311070
Prune1-Related Neurological Syndrome	Retinopathy, Optic atrophy, Inability to walk, Elevated circulating creatine kinase concentration...	ORPHA:544469
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Inability to walk, Irritability, Gait disturbance, Loss of ambulation, Athetosis	OMIM:618241
Zika Virus Disease	Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro...	ORPHA:448237
7Q11.23 Microduplication Syndrome	Retrognathia, Dental malocclusion, Hyperactivity, High palate, Short stature, Short lingual frenu...	ORPHA:96121
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Motor axonal neuropathy, Gait disturbance, Ataxia, Elevated circulating creatine k...	OMIM:614298
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia	OMIM:226300
4H Leukodystrophy	Optic atrophy, Dysdiadochokinesis, Progressive gait ataxia, Ataxia, Dysmetria, Tremor, Cataract, ...	ORPHA:289494
Sickle Cell Anemia	Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt...	ORPHA:232
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Recurrent fractures, Short stature, Coronal craniosynostosis, Microgna...	OMIM:112240
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge, Osteopenia, Craniosynostosis, Intrauterine growth retardation...	OMIM:614732
Shprintzen-Goldberg Craniosynostosis Syndrome	Dental malocclusion, Genu valgum, Narrow palate, Wide anterior fontanel, Joint contracture of the...	OMIM:182212
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia	ORPHA:2494
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Failure to thrive in infancy, Anemia, Giant platelets	OMIM:611209
Cutis Laxa, Autosomal Dominant 3	Delayed cranial suture closure, Hip dislocation, Wormian bones, Osteopenia, Intrauterine growth r...	OMIM:616603
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C...	ORPHA:585
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cran...	ORPHA:163649
Megalocornea-Mental Retardation Syndrome	Megalocornea, Hypoplasia of the iris, Ataxia, Hypercholesterolemia, Iridodonesis	OMIM:249310
Lysosomal Acid Lipase Deficiency	Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Failure to thrive, Increased ...	OMIM:278000
Wilson Disease	Anemia, Aggressive behavior, Weight loss, Hypersexuality, Failure to thrive, Difficulty walking, ...	ORPHA:905
Cinca Syndrome	Anemia, Uveitis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentration, Eosin...	OMIM:607115
Leber Congenital Amaurosis	Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, High palate, Wide anterior fontanel, Short stature, Short nose, Thin vermilion bor...	OMIM:601853
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Anencephaly	ORPHA:2476
Marbach-Rustad Progeroid Syndrome	Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Short stature, Micrognat...	OMIM:619322
Maternal Uniparental Disomy Of Chromosome 4	Rod-cone dystrophy, Decreased LDL cholesterol concentration, Decreased body weight, Optic atrophy...	ORPHA:96180
Infantile Refsum Disease	Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Optic atrophy, Ataxia, Fail...	ORPHA:772
Chromosome 16Q22 Deletion Syndrome	High palate, Wide anterior fontanel, Wide nasal bridge, Micrognathia, Depressed nasal bridge, Gro...	OMIM:614541
Congenital Sialidosis Type 2	Optic atrophy, Ataxia, Developmental cataract, Hepatosplenomegaly, Hypoplasia of the fovea, Dysme...	ORPHA:93400
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa...	ORPHA:67042
Alg12-Cdg	B lymphocytopenia, Abnormal peripheral nervous system morphology, Hypocholesterolemia, Failure to...	ORPHA:79324
Momo Syndrome	Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed eruption of teeth, Th...	OMIM:157980
Bardet-Biedl Syndrome 20	Rod-cone dystrophy, Retinal vascular tortuosity, Obesity, Astigmatism, Hypercholesterolemia, Papi...	OMIM:619471
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Temple Syndrome	Small for gestational age, Obesity, Truncal obesity, Overweight, Hypercholesterolemia, Hypertrigl...	OMIM:616222
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurr...	OMIM:259420
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Osteogenesis Imperfecta	Flexion contracture, Convex nasal ridge, Delayed eruption of teeth, Micrognathia, Dislocated radi...	ORPHA:666
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Growth delay, Wormian bones	OMIM:614450
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Peripapillary atrophy, Hemolytic anemia, Limb dystonia, Polycoria, Retinal ar...	OMIM:175780
Cardiofaciocutaneous Syndrome 1	Dental malocclusion, High palate, Hyperextensibility of the finger joints, Short stature, Deep ph...	OMIM:115150
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon...	OMIM:300539
Gm1 Gangliosidosis	Splenomegaly, Cognitive impairment, Optic atrophy, Weight loss, Gait disturbance, Ataxia, Hepatos...	ORPHA:354
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Marburg Hemorrhagic Fever	Leukopenia, Aggressive behavior, Hypokalemia, Uveitis, Elevated circulating creatine kinase conce...	ORPHA:99826
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Dementia, Optic atrophy	OMIM:182830
S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Fail...	ORPHA:88618
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Hyperalaninemia, Optic atrophy, Ataxia, Increased serum pyruvate, Unsteady gait, Dystonia	OMIM:245349
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Increased circulating metamyelocyte count, Elevated circulating creatine kinase con...	ORPHA:36234
Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma	OMIM:144010
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Enamel hypoplasia, Dental malocclusion, Wide nasal bridge, Microdontia, Oligodonti...	OMIM:618727
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Limb dystonia, Choreoathetosis, Abetalipoproteinemia, Bull's eye maculopathy, Rod-...	ORPHA:157850
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Oculoauricular Syndrome	Morning glory anomaly, Rod-cone dystrophy, Posterior embryotoxon, Cone/cone-rod dystrophy, Macula...	OMIM:612109
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Developmental And Epileptic Encephalopathy 93	Iris coloboma, Optic atrophy, Gait disturbance, Inability to walk	OMIM:618012
Craniosynostosis And Dental Anomalies	Wide nose, Sagittal craniosynostosis, Dental malocclusion, Convex nasal ridge, Mandibular prognat...	OMIM:614188
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Delayed cranial suture closure, Mandibular prognathia, Abnormality of the wrist, Severe short sta...	ORPHA:2511
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Short philtrum, Short nose, Downturned corners of m...	OMIM:601224
Wagro Syndrome	Aggressive behavior, Emotional lability, Cataract, Corneal opacity, Anxiety, Low frustration tole...	OMIM:612469
Pelizaeus-Merzbacher Disease	Cognitive impairment, Optic atrophy, Inability to walk, Writer's cramp, Choreoathetosis, Apathy, ...	OMIM:312080
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Gait ataxia, Optic atrophy, Truncal ataxia, Limb ataxia, Emotional lability, Elevated circulating...	OMIM:258450
Idiopathic Intracranial Hypertension	Abnormal emotion/affect behavior, Obesity, Depression, Lethargy, Papilledema	ORPHA:238624
Anterior Segment Dysgenesis 2	Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an...	OMIM:610256
Congenital Primary Aphakia	Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co...	ORPHA:83461
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Retinitis Pigmentosa	Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal reti...	ORPHA:791
Retinitis Pigmentosa 70	Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess...	OMIM:615922
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Chondrodysplasia Punctata, Autosomal Dominant	Knee flexion contracture, Hip contracture, Epiphyseal stippling, Moderate postnatal growth retard...	OMIM:118650
Noonan Syndrome 4	Dental malocclusion, Short stature, Wide mouth, Depressed nasal bridge, Cubitus valgus, Thick ver...	OMIM:610733
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Generalized aminoaciduria, Elevated circulating alpha-fetoprotein concentrati...	OMIM:251880
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Oro...	ORPHA:97360
Revesz Syndrome	Megalocornea, Leukocoria, Exudative retinopathy, Ataxia, Progressive neurologic deterioration, Ap...	OMIM:268130
Cleidocranial Dysplasia	Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Large fontanelles, Cleft palate, G...	ORPHA:1452
Retinitis Pigmentosa 50	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt...	OMIM:613194
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Sclerosteosis 1	Dental malocclusion, Mandibular prognathia, Wide nasal bridge, Facial palsy secondary to cranial ...	OMIM:269500
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Lethargy, Optic atrophy	OMIM:618228
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system, Ataxia	ORPHA:1186
Irvan Syndrome	Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ...	ORPHA:209943
Zellweger Syndrome	Brushfield spots, Cognitive impairment, Posterior embryotoxon, Optic atrophy, Abnormal chorioreti...	ORPHA:912
Robinow Syndrome, Autosomal Dominant 3	Dental malocclusion, Bifid tongue, Long philtrum, Wide nasal bridge, Short stature, Micrognathia,...	OMIM:616894
Turnpenny-Fry Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Wide anterior fontanel, Widely spaced te...	OMIM:618371
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Emotional lability, Increased blood...	OMIM:223900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Sideroblastic anemia...	OMIM:249270
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Irritability, Ataxia, Absent speech	OMIM:616881
Microphthalmia, Isolated, With Coloboma 9	Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Retinal detachment, Macular colob...	OMIM:615145
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the knee, Abnormal cortical bone morphology, Osteolysis, Abno...	ORPHA:970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Anemia, Hyperuricemia, Neutropenia	OMIM:617056
Leukodystrophy, Hypomyelinating, 16	Gait ataxia, Shuffling gait, Choreoathetosis, Intention tremor, Failure to thrive, Dysmetria, Opt...	OMIM:617964
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Optic ...	OMIM:301056
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Weight loss	ORPHA:317
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:620102
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Decreased prealbumin level, Reduced proportion of CD4-negative, CD8...	ORPHA:37042
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Optic disc pallor, Cherry red spot of the macula, Irritability, Ataxia	OMIM:615281
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Rod-cone dystrophy, Optic atrophy, Ataxia, Dysmetria, Cataract, Decreased nerve conduction veloci...	OMIM:612674
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Flexion contracture, Convex nasal ridge, Patellar dislocation, Wi...	OMIM:180849
Papillorenal Syndrome	Morning glory anomaly, Lens luxation, Macular degeneration, Cataract, Chorioretinal atrophy, Macu...	OMIM:120330
Mevalonic Aciduria	Anemia, Fluctuating splenomegaly, Attenuation of retinal blood vessels, Ataxia, Elevated circulat...	OMIM:610377
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Hyperalaninemia, Optic atrophy, Optic disc pallor, Self-biting, Failure to thrive, Athetosis, Ele...	OMIM:614388
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:615838
Charcot-Marie-Tooth Disease Type 4C	Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Inability to ...	ORPHA:99949
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Vertebral fusion, Narrow palate, High palate, Wide mouth, Deep philtrum, Cam...	OMIM:227330
Tangier Disease	Splenomegaly, Facial diplegia, Decreased HDL cholesterol concentration, Peripheral axonal neuropa...	OMIM:205400
Hepatocellular Carcinoma	Anemia, Weight loss, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Emotional labi...	ORPHA:88673
Elsahy-Waters Syndrome	Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Agenesis of incisor, Supernumerary too...	OMIM:211380
Congenital Hydrocephalus	Macular hypoplasia, Iris coloboma, Optic atrophy	ORPHA:2185
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Resting tremor, Ataxia, Mildly elevated creatine kinase, Peripheral axonal neuropa...	ORPHA:401768
Aniridia 2	Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Leber Congenital Amaurosis 14	Retinal dystrophy, Rod-cone dystrophy, Falls, Optic disc pallor	OMIM:613341
Cole-Carpenter Syndrome	Recurrent fractures, Short stature, Delayed eruption of teeth, Micrognathia, Joint hyperflexibili...	ORPHA:2050
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Astigmatism, Decreased HDL cholesterol concentration, Iron deficiency...	OMIM:618885
3-Methylglutaconic Aciduria Type 9	Slender build, Failure to thrive, Aggressive behavior, Optic atrophy	ORPHA:505216
Syndromic Diarrhea	Hypoplasia of the thymus, Abnormality of iron homeostasis, Small for gestational age, Increased m...	ORPHA:84064
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Thin bony cortex, Delayed closure of the anterior fontanelle, Delayed ...	OMIM:259600
Infantile Cerebellar-Retinal Degeneration	Decreased body weight, Optic atrophy, Retinal dystrophy, Ataxia, Failure to thrive, Athetosis	OMIM:614559
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Joint contracture of the hand, Micrognathia, Camptodactyly, Malar flattening	OMIM:608257
Amoebiasis Due To Entamoeba Histolytica	Anemia, Weight loss, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia	ORPHA:67
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida	ORPHA:63260
Multiple Sulfatase Deficiency	Splenomegaly, Retinal degeneration, Ataxia, Rapid neurologic deterioration, Corneal opacity, Peri...	OMIM:272200
Localized Scleroderma	Dental malocclusion, Flexion contracture, Abnormality of the dentition, Arthritis, Abnormal upper...	ORPHA:90289
Relapsing Fever	Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot...	ORPHA:91547
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn...	ORPHA:364055
Tay-Sachs Disease	Exaggerated startle response, Inability to walk, Gait disturbance, Absent speech, Dysmetria, Trem...	ORPHA:845
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun...	ORPHA:90041
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Steatorrhea, Hypoalbuminemia	OMIM:602579
Srd5A3-Cdg	Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Ataxia, Cataract, Microcytic ...	ORPHA:324737
Six2-Related Frontonasal Dysplasia	Aplasia/Hypoplasia of the frontal sinuses, Wide anterior fontanel, Short stature, Absent/hypoplas...	ORPHA:488437
Nephronophthisis 11	Anisocoria, Retinal degeneration, Anemia	OMIM:613550
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Flexion contracture, High palate	OMIM:310400
Hyperlipoproteinemia, Type I	Lipemia retinalis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, In...	OMIM:238600
Al Amyloidosis	Anemia, Howell-Jolly bodies, Weight loss, Abnormal autonomic nervous system physiology, Increased...	ORPHA:85443
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Cataract, Attenuation of retinal blood vessels	OMIM:614376
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Hypercholesterolemia, Hyperaldosteronism, Aminoaciduria, Anemia, Lenti...	ORPHA:534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Cognitive impairment, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea ni...	OMIM:235400
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Irritability, Ataxia, Failure to thrive, Lethargy, Dystonia	OMIM:618226
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Autosomal Recessive Cutis Laxa Type 2A	Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, Lo...	ORPHA:357058
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Short stature, Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis	OMIM:259730
Posterior Column Ataxia With Retinitis Pigmentosa	Pigmentary retinopathy, Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule...	OMIM:609033
Lysinuric Protein Intolerance	Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Hypercholesterolemia, Argininuria, Thrombocytop...	ORPHA:470
Retinitis Pigmentosa 38	Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume, Optic atrophy	ORPHA:487796
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Anterior chamber flare, Choroidal neovascularization, Cystoid macular edema, Papil...	ORPHA:91500
Retinitis Pigmentosa 26	Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:608380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Isolated Ectopia Lentis	Cognitive impairment, Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Gait ataxia, Cognitive impairment, Inability to walk, Motor deterioration, Ataxia, Dementia, Unst...	ORPHA:1947
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Gait disturbance, Optic nerve hypoplasia, Failure to thrive, Cataract, Chorioretin...	ORPHA:163937
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Failure to thrive, Hypoalbuminemia	ORPHA:367
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed cranial suture closure, Retrognathia, Wide nasal bridge, Delayed eruption of teeth, Incre...	ORPHA:2780
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Dysdiadochokinesis, Ataxia, Dysmetria, Difficulty walking, Mental deterioration, D...	OMIM:612319
Acquired Aneurysmal Subarachnoid Hemorrhage	Cognitive impairment, Progressive neurologic deterioration, Leukocytosis, Hypercholesterolemia, M...	ORPHA:90065
Laron Syndrome	Truncal obesity, Hypercholesterolemia	ORPHA:633
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy	OMIM:608470
Phelan-Mcdermid Syndrome	Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Widely spaced teeth, Microgna...	OMIM:606232
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Foot joint contracture, Infancy onset short-trunk short stature, Macrodontia...	ORPHA:444072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Elevated circulat...	OMIM:236670
Cutis Laxa, Autosomal Recessive, Type Iib	High palate, Narrow nasal ridge, Long philtrum, Joint hypermobility, Congenital hip dislocation, ...	OMIM:612940
Knobloch Syndrome 1	Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Attenuation of retinal ...	OMIM:267750
Duane Retraction Syndrome	Abnormal pupil morphology, Blepharospasm, Central heterochromia, Optic disc hypoplasia, Microcorn...	ORPHA:233
Brown-Vialetto-Van Laere Syndrome 2	Aggressive behavior, Optic atrophy, Ataxia, Facial palsy	OMIM:614707
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Flexion contracture, High palate, Acroosteolysis of distal phalan...	OMIM:608612
Myopathy With Extrapyramidal Signs	Hyperlysinemia, Optic atrophy, Choreoathetosis, Ataxia, Elevated circulating creatine kinase conc...	OMIM:615673
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Brushfield spots, Aminoaciduria, Hypoplasia of the thymus, Elevated circul...	OMIM:214110
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail...	OMIM:605814
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Apathy, Dystonia, Dementia	OMIM:272750
Distal Monosomy 6P	Posterior embryotoxon, Self-injurious behavior, Hypoplasia of the iris, Anterior synechiae of the...	ORPHA:96125
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea	ORPHA:139471
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Elevated circulating creatinine concentration, Peripheral demyelination	OMIM:616733
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Morning glory anomaly, Cognitive impairment, Optic atrophy, Gait dist...	ORPHA:98673
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Cockayne Syndrome A	Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Prominent nose, S...	OMIM:216400
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Decreased LDL cholesterol concentration, Retinal degeneration, Steatorrhea, A...	OMIM:615558
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system physiology, Sideroblastic ...	OMIM:598500
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Recurrent fractures, Short stature, Long philtrum, Increased bone mine...	OMIM:614856
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Irritab...	OMIM:608643
Subependymal Nodular Heterotopia	Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele	ORPHA:101030
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flexion contracture, Fractured radius, Wide nasal bridge, Micrognathia, Short nose, Unilateral cl...	OMIM:616897
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Cinca Syndrome	Abnormality of thrombocytes, Anemia, Pseudopapilledema, Abnormal granulocyte morphology, Uveitis,...	ORPHA:1451
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Optic atrophy, Retinal dystrophy, Thrombocytopenia, Lethargy	ORPHA:49827
Night Blindness, Congenital Stationary, Type 1G	Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor	OMIM:616389
Martin-Probst Syndrome	Dental malocclusion, Short stature, Wide nasal bridge, Thick lower lip vermilion, Micrognathia, W...	OMIM:300519
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Leigh Syndrome	Optic atrophy, Emotional lability, Ataxia, Failure to thrive, Dystonia, Pigmentary retinopathy	OMIM:256000
Cutis Laxa, Autosomal Recessive, Type Iiia	Narrow nasal ridge, Short stature, Hip dislocation, Joint hypermobility, Wormian bones, Congenita...	OMIM:219150
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response, Inability to walk, Absent speech	OMIM:620114
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Tip-toe gait, Cognitive impairment, Inability to walk, Optic disc pallor, Wei...	ORPHA:216866
Folinic Acid-Responsive Seizures	Optic atrophy, Ataxia, Difficulty walking, Irritability, Dystonia, Broad-based gait	ORPHA:79097
Mandibuloacral Dysplasia With Type A Lipodystrophy	Delayed cranial suture closure, Flexion contracture, Convex nasal ridge, Acroosteolysis of distal...	OMIM:248370
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Anemia, Corneal opacity, Hypoalbuminemia	ORPHA:79396
Triple A Syndrome	Iris coloboma, Optic atrophy, Ataxia, Motor axonal neuropathy	ORPHA:869
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Rod-cone dystrophy, Aggressive behavior, Optic atrophy, Ataxia, Dysmetria, Tremor, Thrombocytopen...	OMIM:617710
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Increased susceptibility to fractures, Genu varum, Enamel hypoplasia, Short sta...	ORPHA:289157
Congenital Muscular Dystrophy, Fukuyama Type	Retinal dysplasia, Cataract, Gait disturbance, Optic atrophy	ORPHA:272
Osteogenesis Imperfecta, Type Xx	Retrognathia, Mandibular prognathia, Narrow palate, High palate, Agenesis of permanent teeth, Dis...	OMIM:618644
Triopia	Abnormal pupil morphology, Iris coloboma, Microcornea	ORPHA:3374
Cockayne Syndrome B	Dental malocclusion, Mandibular prognathia, Delayed eruption of primary teeth, Prominent nasal br...	OMIM:133540
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Gait imbalance, Inability to walk, Gait disturbance, Decreased nerve c...	ORPHA:90658
Barber-Say Syndrome	Underdeveloped nasal alae, Wide nose, Dental malocclusion, Mandibular prognathia, High palate, Wi...	OMIM:209885
Null Syndrome	Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk, Ataxia, Decreased n...	ORPHA:280234
Dysbetalipoproteinemia	Hypercholesterolemia, Corneal arcus, Obesity, Increased LDL cholesterol concentration, Decreased ...	ORPHA:412
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation	OMIM:603194
Retinitis Pigmentosa 46	Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d...	OMIM:612572
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Gait ataxia, Optic atrophy, Truncal ataxia, Episodic ataxia, Ataxia, Dysmetria, Peripheral axonal...	OMIM:601338
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Leukodystrophy, Hypomyelinating, 22	Astigmatism, Optic disc pallor, Inability to walk	OMIM:619328
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Schimke Immuno-Osseous Dysplasia	Anemia, Small for gestational age, Lymphopenia, Failure to thrive, Corneal opacity, Hyperlipidemi...	ORPHA:1830
Spastic Paraplegia 7, Autosomal Recessive	Gait ataxia, Spastic ataxia, Cognitive impairment, Spastic gait, Dysdiadochokinesis, Optic atroph...	OMIM:607259
Alg8-Cdg	Anemia, Retinopathy, Optic atrophy, Small for gestational age, Ataxia, Failure to thrive, Catarac...	ORPHA:79325
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Inability to walk	OMIM:166300
Coffin-Lowry Syndrome	Wide nose, Dental malocclusion, Delayed closure of the anterior fontanelle, Mandibular prognathia...	OMIM:303600
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Leukodystrophy, Hypomyelinating, 2	Cognitive impairment, Optic atrophy, Decreased motor nerve conduction velocity, Choreoathetosis, ...	OMIM:608804
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth, Unicoronal synostosis, Bicoronal synostosis, Metopic syno...	OMIM:604757
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate...	ORPHA:274
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Fabry Disease	Abnormal circulating lipid concentration, Anemia, Cognitive impairment, Optic atrophy, Cataract, ...	ORPHA:324
Behr Syndrome	Optic atrophy, Hypoplastic optic chiasm, Truncal ataxia, Gait disturbance, Ataxia, Dysmetria, Tre...	OMIM:210000
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Wide nasal bridge, Micrognathia, Joint laxity, Maxillary late...	ORPHA:73223
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea	OMIM:217300
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Calvarial osteosclerosis, Birth length less than 3rd ...	OMIM:244460
Bruck Syndrome 2	Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Short statu...	OMIM:609220
Spondyloenchondrodysplasia	Dental malocclusion, Short stature, Delayed eruption of teeth, Juvenile rheumatoid arthritis, Art...	ORPHA:1855
Sponastrime Dysplasia	Hip subluxation, Aplasia of the nasal bone, Microdontia, Ivory epiphyses of the phalanges of the ...	ORPHA:93357
Microcephaly, Amish Type	Failure to thrive, Hypoplasia of the fovea, Irritability, Optic atrophy	OMIM:607196
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:606068
Hurler-Scheie Syndrome	Splenomegaly, Abnormal nerve conduction velocity, Corneal opacity	ORPHA:93476
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Ataxia, Macrothrombocytopenia, Thrombocytopeni...	OMIM:603585
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Dysdiadochokinesis, Mildly elevated creatine kinase, Dysmetria, Tremor, Difficulty walking, Depre...	ORPHA:502423
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Obesity, Truncal obesity, Hypercholesterolemia	ORPHA:96184
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Irritability, Inability to walk, Absent speech	OMIM:617864
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Intrauterine growth retardation	OMIM:611134
Cerebellofaciodental Syndrome	Dental malocclusion, Genu valgum, Macrodontia of permanent maxillary central incisor, Short statu...	OMIM:616202
Retinitis Pigmentosa 1	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180100
Wolfram Syndrome 1	Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Ataxia, Cataract, Tremor, Thrombocytop...	OMIM:222300
Schisis Association	Spina bifida, Anencephaly, Encephalocele	ORPHA:63862
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Choroideremia, Ocular albinism, Iris hypopigmentation, Ataxia, Cataract, Corneal opacity,...	ORPHA:2719
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, Inability to walk, Failure to thrive, Hyperammonemia, Dystonia	OMIM:614739
Brittle Cornea Syndrome 2	Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F...	OMIM:614170
Hsd10 Disease, Infantile Type	Paroxysmal bursts of laughter, Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Choreoath...	ORPHA:391428
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Gait disturbance, Ataxia, Tremor	ORPHA:99014
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro...	ORPHA:1908
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Failure to thrive, Lethargy, Conjugated...	OMIM:617156
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology	ORPHA:293621
Infantile Neuroaxonal Dystrophy	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nervous system phys...	ORPHA:35069
Idiopathic Congenital Hypothyroidism	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Macroglossia, L...	ORPHA:95717
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Recurrent fractures, Wide nasal bridge, Micrognathia, Joint laxity, Joint hyper...	OMIM:617952
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ...	ORPHA:171673
Congenital Myopathy 17	Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, High palate, Long philtrum, Te...	OMIM:618975
Krabbe Disease	Optic atrophy, Motor deterioration, Autoimmune thrombocytopenia, Failure to thrive, Decreased ner...	OMIM:245200
Retinitis Pigmentosa And Erythrocytic Microcytosis	Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron...	OMIM:616959
Mandibuloacral Dysplasia	Delayed cranial suture closure, Contractures of the large joints, High palate, Acroosteolysis of ...	ORPHA:2457
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Retinal dysplasia, Re...	OMIM:614643
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenuation of retina...	OMIM:619260
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Tremor, Schist...	OMIM:274150
Congenital Generalized Lipodystrophy	Failure to thrive, Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:528
Bruck Syndrome	Recurrent fractures, Short stature, Pterygium, Arthrogryposis multiplex congenita, Joint stiffnes...	ORPHA:2771
Insulin-Resistance Syndrome Type B	Leukopenia, Abnormal circulating lipid concentration, Decreased body weight, Weight loss, Increas...	ORPHA:2298
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Antley-Bixler Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Long philtrum, Elbo...	ORPHA:83
Progressive Myoclonic Epilepsy Type 3	Optic atrophy, Progressive truncal ataxia, Dementia, Progressive cerebellar ataxia, Progressive p...	ORPHA:263516
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Underdeveloped nasal alae, Prominence of the zygomatic bone, Pierre-Robin sequenc...	ORPHA:364577
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Small for gestational age, Elevated circulating creatine kinase concentration, Fai...	OMIM:619055
Superficial Siderosis	Abnormality of the brachial nerve plexus, Cognitive impairment, Dysdiadochokinesis, Progressive g...	ORPHA:247245
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Aggressive behavior, Self-injurious behavior, Optic atrophy, Ataxia, Failure to thrive, Cataract,...	OMIM:619833
Faciocardiomelic Syndrome	Thin bony cortex, Dental malocclusion, Long philtrum, Wide mouth, Micrognathia, Hyperplasia of th...	OMIM:612731
Arachnoid Cyst	Diminished motivation, Social and occupational deterioration, Cranial nerve compression, Mydriasi...	ORPHA:2356
Multiple Carboxylase Deficiency	Optic atrophy, Hyperammonemia, Lethargy, Ataxia	ORPHA:148
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Delayed cranial suture closure, Flexion contracture, High palate, Long philtrum, Wide nasal bridg...	OMIM:619383
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori...	OMIM:212550
Optic Atrophy 11	Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Mildly elevated creatine kinase, Fac...	OMIM:617302
Mccune-Albright Syndrome	Monostotic fibrous dysplasia, Dental malocclusion, Recurrent fractures, Osteomalacia, Aneurysmal ...	ORPHA:562
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612926
Insensitivity To Pain, Congenital, With Anhidrosis	Corneal scarring, Abnormal autonomic nervous system physiology, Decreased number of small periphe...	OMIM:256800
Osteopetrosis, Autosomal Recessive 8	Anemia, Optic atrophy, Failure to thrive, Thrombocytopenia, Splenomegaly, Facial palsy	OMIM:615085
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Wide nose, Dental malocclusion, Retrognathia, Convex nasal ridge, Prominent nose, High palate, Bi...	OMIM:601552
Nevus Comedonicus Syndrome	Spina bifida, Spina bifida occulta	ORPHA:64754
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Farber Disease	Abnormal conjunctiva morphology, Anemia, Macular degeneration, Hepatosplenomegaly, Failure to thr...	ORPHA:333
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Greig Cephalopolysyndactyly Syndrome	Delayed cranial suture closure, Joint contracture of the hand, Wide nasal bridge, Camptodactyly o...	OMIM:175700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612924
Parietal Foramina 1	Cleft palate, Cleft upper lip, Encephalocele, Wormian bones	OMIM:168500
Menkes Disease	Short stature, Joint laxity, Osteoporosis, Intrauterine growth retardation, Wormian bones	OMIM:309400
Autosomal Dominant Kenny-Caffey Syndrome	Delayed cranial suture closure, Short stature, Calvarial osteosclerosis, Cortical thickening of l...	ORPHA:93325
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Retinopathy, Hyperopic astigmatism, Retinal degeneration, Op...	OMIM:252600
Spinocerebellar Ataxia, Autosomal Recessive 18	Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Ataxia, Dysmetria, Optic disc pallor	OMIM:616204
Incontinentia Pigmenti	Retinal hemorrhage, Cognitive impairment, Retinal vascular proliferation, Gait disturbance, Abnor...	ORPHA:464
Alagille Syndrome	Abnormal pupil morphology, Failure to thrive, Corneal dystrophy, Keratoconus	ORPHA:52
Angelman Syndrome	Aggressive behavior, Self-injurious behavior, Optic atrophy, Inability to walk, Iris hypopigmenta...	ORPHA:72
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Depress...	ORPHA:90674
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
Holoprosencephaly 9	Dental malocclusion, Single naris, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premax...	OMIM:610829
Tangier Disease	Anemia, Hepatosplenomegaly, Facial diplegia, Peripheral axonal neuropathy, Corneal opacity, Hypoc...	ORPHA:31150
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612925
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Optic atrophy, Failure to thrive, Cataract, Microcytic anemia	OMIM:612379
Mucopolysaccharidosis Type 3	Splenomegaly, Rod-cone dystrophy, Aggressive behavior, Optic atrophy, Retinal degeneration, Hyper...	ORPHA:581
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Microretrognathia, Wide nasal bridge	OMIM:615560
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy	OMIM:207950
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Gait ataxia, Optic atrophy, Elevated circulating alpha-fetoprotein concentration, Mildly elevated...	ORPHA:95433
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Serotonin Syndrome	Mydriasis, Anxiety, Abnormality of the autonomic nervous system, Tremor, Mental deterioration, Ir...	ORPHA:43116
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy, Ataxia, Dysmetria, Head titubation, Intention tremor	OMIM:618688
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Short stature, Deep philtrum, Short nose, Depressed nasal bridge, Large fontanelles, A...	OMIM:613320
Macular Dystrophy With Central Cone Involvement	Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dystrophy, Optic disc p...	OMIM:616170
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Optic atrophy, Small for gestational age, Failure to thrive, Hyperammonemia, Dys...	OMIM:614702
Brachydactyly, Type B1	Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th...	OMIM:113000
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Obtuse angle of mandible, High palate, Wide anterior fontanel, Increased bone m...	ORPHA:85184
Alagille Syndrome 1	Posterior embryotoxon, Axenfeld anomaly, Microcornea, Failure to thrive, Cataract, Chorioretinal ...	OMIM:118450
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Aggressive behavior	ORPHA:289483
Primary Sclerosing Cholangitis	Weight loss, Abnormal eosinophil morphology, Uveitis, Hepatosplenomegaly, Depression, Histiocytos...	ORPHA:171
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos...	OMIM:600132
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:90060
Mohr Syndrome	Lobulated tongue, Bifid tongue, High palate, Short stature, Tongue nodules, Micrognathia, Median ...	OMIM:252100
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal opacity, Corneal guttata, Corneal stromal edema	OMIM:613267
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short stature, D...	ORPHA:2484
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Fa...	ORPHA:264580
Mohr-Tranebjaerg Syndrome	Shuffling gait, Optic atrophy, Inability to walk, Abnormality of somatosensory evoked potentials,...	ORPHA:52368
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Dystonia, Ataxia	OMIM:230650
Cleidocranial Dysplasia 1	Wide nasal bridge, Hypoplastic frontal sinuses, Increased bone mineral density, Micrognathia, Hip...	OMIM:119600
Rere-Related Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Astigmatism, Iris coloboma, Peters anomaly, Chorioretinal...	ORPHA:494344
Mitochondrial Membrane Protein-Associated Neurodegeneration	Shuffling gait, Optic atrophy, Motor axonal neuropathy, Gait disturbance, Hand tremor, Mental det...	ORPHA:289560
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Dentinogenesis imperfecta, Bowing of limbs due to multiple...	OMIM:166220
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent...	ORPHA:90363
White-Sutton Syndrome	Hyperactivity, Mandibular prognathia, High palate, Short stature, Micrognathia, Bifid uvula, Shor...	OMIM:616364
Wildervanck Syndrome	Meningocele	ORPHA:3456
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Corneal opacity	ORPHA:281090
Marinesco-Sjögren Syndrome	Abnormal circulating creatine kinase concentration, Cataract, Optic atrophy, Ataxia	ORPHA:559
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Optic atrophy, Progressive gait ataxia, Bipolar affective disorder, Loss of ambulation, De...	ORPHA:329308
Caudal Duplication	Spina bifida, Myelomeningocele	ORPHA:1756
Stiff-Person Syndrome	Exaggerated startle response, Depression, Anxiety, Agoraphobia, Opisthotonus	OMIM:184850
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure, Short stature, Macroglossia, Short nose, Depressed nasal bridge, ...	OMIM:613038
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Anemia, Cognitive impairment, Weight loss, Hypersplenism, Cachexia, Hyperka...	ORPHA:275761
Cockayne Syndrome Type 1	Conjunctivitis, Anemia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainst...	ORPHA:90321
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Short stature, Recurrent fractures, Microretrognathia, Joint hypermobility, Tooth age...	OMIM:616229
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma, Gait disturbance	OMIM:271630
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Retinitis Pigmentosa 12	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:600105
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Acrodysostosis With Multiple Hormone Resistance	Hyperactivity, Mandibular prognathia, Absent/hypoplastic paranasal sinuses, Hypoplasia of the nas...	ORPHA:280651
Cerebrotendinous Xanthomatosis	Abnormality of central somatosensory evoked potentials, Abnormal circulating cholesterol concentr...	OMIM:213700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri...	ORPHA:79240
Congenital Hereditary Endothelial Dystrophy Type Ii	Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co...	ORPHA:293603
Ulna Hypoplasia-Intellectual Disability Syndrome	Delayed cranial suture closure, Elbow dislocation, Severe short stature, Large fontanelles, Joint...	ORPHA:2249
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Retinal dystrophy, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Severe failure to t...	ORPHA:423479
Spinocerebellar Ataxia 13	Gait ataxia, Cognitive impairment, Optic atrophy, Limb ataxia, Limb dysmetria, Progressive cerebe...	OMIM:605259
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Memory impairment, Peripheral demyelination, Megaloblastic anemia, Optic atrophy, Methylmalonic a...	ORPHA:79282
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Failure to...	ORPHA:370
Grant Syndrome	Micrognathia, Wormian bones	OMIM:138930
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Gait ataxia, Alpha-aminoadipic aciduria, Optic atrophy, Ataxia, Loss of ambulation, Cataract, Opt...	OMIM:620089
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Mitochondrial Complex I Deficiency, Nuclear Type 28	Hyperalaninemia, Optic atrophy, Akinesia, Truncal ataxia, Choreoathetosis, Failure to thrive, Opt...	OMIM:618249
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Failure to thrive, Elevated circulating C-reactive protein concentration, Thromboc...	OMIM:617718
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty...	OMIM:608836
Osteopetrosis, Autosomal Recessive 4	Anemia, Optic atrophy, Reticulocytosis, Thrombocytopenia, Optic disc pallor, Splenomegaly, Facial...	OMIM:611490
Meningococcal Meningitis	Papilledema, Lethargy, Irritability, Elevated circulating C-reactive protein concentration	ORPHA:33475
Juvenile Polyposis Syndrome	Failure to thrive, Hypokalemia, Anemia, Hypoalbuminemia	OMIM:174900
Distal Monosomy 13Q	Iris coloboma, Cognitive impairment, Optic atrophy	ORPHA:1590
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Anxiety	OMIM:266265
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters anomaly, Persis...	OMIM:613150
Microphthalmia, Syndromic 2	Dental malocclusion, Flexion contracture, Long philtrum, Short stature, Delayed eruption of teeth...	OMIM:300166
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Stromme Syndrome	Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, ...	OMIM:243605
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Mandibular prognathia, Recurrent fractures, Hyperextensibi...	OMIM:231070
Metachromatic Leukodystrophy	Optic atrophy, Gait disturbance, Ataxia, Emotional lability, Decreased nerve conduction velocity,...	OMIM:250100
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Smith-Lemli-Opitz Syndrome	Splenomegaly, Aggressive behavior, Aganglionic megacolon, Failure to thrive, Cataract, Hypocholes...	OMIM:270400
Neuronal Intranuclear Inclusion Disease	Optic atrophy, Dementia, Ataxia	ORPHA:2289
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental malocclusion, Talon cusp, Convex nasal ridge, Hyperactivity, Patellar dislocation, Short s...	ORPHA:353281
Silver-Russell Syndrome 1	Delayed cranial suture closure, Micrognathia, Downturned corners of mouth, Intrauterine growth re...	OMIM:180860
Intermediate Uveitis	Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi...	ORPHA:279914
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe...	ORPHA:790
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Gait disturbance, Astigmatism, Failure to thrive, Corneal opacity, Anx...	ORPHA:464311
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Abnormal optic...	ORPHA:3226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Elevated circ...	OMIM:613154
Mepan Syndrome	Optic atrophy, Limb dystonia, Hemidystonia, Gait disturbance, Ataxia, Failure to thrive, Axial dy...	ORPHA:508093
Alpha-Mannosidosis, Infantile Form	Ataxia, Hepatosplenomegaly, Pancytopenia, Astigmatism, Cataract, Corneal opacity, Depression, Anx...	ORPHA:309282
Craniolenticulosutural Dysplasia	Delayed closure of the anterior fontanelle, High palate, Wide anterior fontanel, Short stature, W...	OMIM:607812
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Anxiety, Dystonia, Broad-based gait	ORPHA:438216
Juvenile Paget Disease	Hyperuricemia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Pelvis-Shoulder Dysplasia	Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma	OMIM:169550
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Resting tremor, Ataxia, Cataract, Head tremor, Depression, Mental deterioration, M...	ORPHA:314404
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele...	OMIM:619662
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental malocclusion, Talon cusp, Convex nasal ridge, Hyperactivity, Patellar dislocation, Short s...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental malocclusion, Talon cusp, Convex nasal ridge, Hyperactivity, Patellar dislocation, Short s...	ORPHA:353277
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Dystonia, Self-mutilation	ORPHA:79233
Osteogenesis Imperfecta, Type Ii	Convex nasal ridge, Recurrent fractures, Disproportionate short-limb short stature, Multiple pren...	OMIM:166210
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Aggressive behavior, Corneal scarring, ...	OMIM:309000
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia	OMIM:617729
Mucopolysaccharidosis Type 2	Retinopathy, Aggressive behavior, Abnormal foveal morphology, Optic atrophy, Cognitive impairment...	ORPHA:580
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Coloboma, Microcornea, Cataract, Ectopia pupillae, Sclerocornea	OMIM:615877
Hurler Syndrome	Retinal degeneration, Hepatosplenomegaly, Progressive neurologic deterioration, Corneal opacity, ...	OMIM:607014
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Highly elevated creatine kinase, Elevated circulating creatine kinase concentratio...	OMIM:251900
Oculomaxillofacial Dysostosis	Cognitive impairment, Corneal opacity	ORPHA:1794
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Dementia, Ataxia, Abnormality of retinal pigmentation	ORPHA:1173
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Jaberi-Elahi Syndrome	Gait ataxia, Inability to walk, Optic atrophy, Choreoathetosis, Failure to thrive, Dysmetria, Tre...	OMIM:617988
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Protrusio acetabuli, Dental malocclusion, Retrognathia, High palate, Int...	ORPHA:284984
Ogden Syndrome	Delayed cranial suture closure, Underdeveloped nasal alae, Enlarged naris, Everted upper lip verm...	ORPHA:276432
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Lethal Ataxia With Deafness And Optic Atrophy	Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased motor nerve conduction v...	ORPHA:1187
Gaucher Disease	Anemia, Retinopathy, Abnormal macular morphology, Ataxia, Pancytopenia, Tremor, Corneal opacity, ...	ORPHA:355
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti...	OMIM:615233
Baraitser-Winter Cerebrofrontofacial Syndrome	Delayed cranial suture closure, Wide nose, Retrognathia, Prominent nose, Long philtrum, Wide nasa...	ORPHA:2995
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop...	OMIM:602482
Steinert Myotonic Dystrophy	Aggressive behavior, Cognitive impairment, Falls, Inability to walk, Anxiety, Gait disturbance, E...	ORPHA:273
Primary Biliary Cholangitis	Orthostatic hypotension, Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia,...	ORPHA:186
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Gait ataxia, Optic atrophy, Dysdiadochokinesis, Dysmetria, Vestibular areflexia, Progressive cere...	ORPHA:504476
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Fibrochondrogenesis 1	Rhizomelia, Joint contracture of the hand, Wide anterior fontanel, Long philtrum, Camptodactyly, ...	OMIM:228520
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a...	ORPHA:1215
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Cognitive impairment, Cystathioninemia, Optic atrophy, Hyperhomocystinemia, Gait disturbance, Hyp...	ORPHA:395
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,...	ORPHA:90038
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Craniosynostosis 6	Delayed cranial suture closure, Right unilambdoid synostosis, Spina bifida occulta, Bicoronal syn...	OMIM:616602
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Optic disc pallor, Gait disturbance, Ataxia, Failure to thrive, Los...	OMIM:617282
Trisomy 10P	Retrognathia, High palate, Abnormal hip joint morphology, Micrognathia, Abnormal lip morphology, ...	ORPHA:171929
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia	ORPHA:209902
Fuchs Endothelial Corneal Dystrophy	Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci...	ORPHA:98974
Silver-Russell Syndrome	Delayed cranial suture closure, Short stature, Micrognathia, Downturned corners of mouth, Thin ve...	ORPHA:813
Opticocochleodentate Degeneration	Optic atrophy, Mental deterioration	OMIM:258700
Craniosynostosis 4	Retrognathia, Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Depressed nasal...	OMIM:600775
Full Nf2-Related Schwannomatosis	Bilateral vestibular schwannoma, Facial palsy, Retinal hamartoma, Epiretinal membrane, Posterior ...	ORPHA:637
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Stt3B-Cdg	Failure to thrive, Thrombocytopenia, Optic atrophy	ORPHA:370924
Lipodystrophy, Familial Partial, Type 7	Gait ataxia, Dysdiadochokinesis, Small for gestational age, Developmental cataract, Failure to th...	OMIM:606721
Lenz-Majewski Hyperostotic Dwarfism	Knee flexion contracture, Proximal symphalangism of hands, Delayed cranial suture closure, Enamel...	OMIM:151050
Lateral Meningocele Syndrome	Meningocele, Vertebral fusion, Short nasal bridge, High palate, Short stature, Long philtrum, Mic...	OMIM:130720
Axenfeld-Rieger Syndrome, Type 1	Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop...	OMIM:180500
Bartsocas-Papas Syndrome 2	Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium	OMIM:619339
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Retrognathia, Convex nasal ridge, Aplasia of the nasal bone, Recu...	OMIM:601812
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Gait ataxia, Exaggerated startle response, Delayed speech and language development, Absent speech...	OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Optic atrophy, Inability to walk, Motor axonal neuropathy, Sensory ...	OMIM:609541
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Brushfield spots, Rod-cone dystrophy, Splenomegaly, Optic atrophy, Elevate...	OMIM:614866
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca...	OMIM:300578
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria, Leukemia	OMIM:180200
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
L-2-Hydroxyglutaric Aciduria	Optic atrophy, L-2-hydroxyglutaric acidemia, Ataxia	OMIM:236792
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch...	OMIM:614195
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Recurrent fractures, Wide anterior fontanel, Joint laxity, Disproporti...	OMIM:610915
Alternating Hemiplegia Of Childhood	Aggressive behavior, Mydriasis, Abnormal autonomic nervous system physiology, Choreoathetosis, At...	ORPHA:2131
De Barsy Syndrome	Delayed closure of the anterior fontanelle, High palate, Generalized joint laxity, Short stature,...	ORPHA:2962
Leber Congenital Amaurosis 15	Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves...	OMIM:613843
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Cognitive impairment, Leukocoria	ORPHA:1556
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Hyperuricemia, Cognitive impairment, Abnormal myeloid leukocyte morp...	ORPHA:79259
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Conjunctivitis, Keratitis, Corneal opacity	OMIM:602562
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Memory impairment, Optic atrophy, Progressi...	ORPHA:309271
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, High palate, Aplasia of the nose, Anosmia, Cleft...	OMIM:603457
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ...	OMIM:165550
Cockayne Syndrome	Enamel hypoplasia, Dental malocclusion, Contractures of the large joints, Convex nasal ridge, Del...	ORPHA:191
Isolated Arrhinia	Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ...	ORPHA:1134
Osteopetrosis, Autosomal Recessive 1	Anemia, Optic atrophy, Pancytopenia, Failure to thrive, Thrombocytopenia, Facial paralysis, Hypoc...	OMIM:259700
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Cognitive impairment, Inability to walk, Bipolar affect...	ORPHA:488632
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cognitive impairment, Optic atrophy, Ataxia, Inappropriate laughter, Difficulty walking, Mental d...	OMIM:618476
Immunodeficiency 47	Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Failure to thrive, Acc...	OMIM:300972
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Refractory anemia, Hypoalbuminemia	ORPHA:79076
Leber Optic Atrophy	Postural tremor, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, ...	OMIM:535000
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia, Absent speech	OMIM:618598
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Hypophosphatemic rickets, Corneal opacity	OMIM:163200
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Macroglossia, L...	ORPHA:95716
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Anemia, Retinal calcification, Transient hypophosphatemia, Small for gestation...	OMIM:127000
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Optic atrop...	ORPHA:320406
Carpenter Syndrome 2	Knee flexion contracture, Dental malocclusion, Retrognathia, Narrow palate, High palate, Wide nas...	OMIM:614976
Idiopathic Anterior Uveitis	Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle...	ORPHA:280914
Neurodegeneration With Brain Iron Accumulation 2B	Gait ataxia, Dysdiadochokinesis, Optic atrophy, Emotional lability, Dysmetria, Mental deteriorati...	OMIM:610217
Dyrk1A-Related Intellectual Disability Syndrome	Small for gestational age, Gait disturbance, Astigmatism, Failure to thrive, Corneal opacity, Anx...	ORPHA:464306
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Elevated circulating C-rea...	OMIM:619644
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Unconjugated hyperbilirubinemia, Small for gestational age, Pancytopenia, Failure to thri...	OMIM:613658
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Williams Syndrome	Patellar dislocation, Wide nasal bridge, Increased bone mineral density, Micrognathia, Microdonti...	ORPHA:904
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Gait ataxia, Optic atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Depression, Un...	OMIM:619259
Hurler Syndrome	Retinopathy, Abnormal nerve conduction velocity, Corneal opacity, Depression, Splenomegaly	ORPHA:93473
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Blepharospasm, Akinesia, Optic atrophy, Retinal degeneration, Choreoathetosis, Ga...	OMIM:234200
Lateral Meningocele Syndrome	Meningocele, High palate, Micrognathia, Craniofacial hyperostosis, Dental crowding, Wormian bones...	ORPHA:2789
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Aminoaciduria, Opacification of the corneal stroma, Elevated circulating long c...	OMIM:214100
Williams-Beuren Syndrome	Dental malocclusion, Flexion contracture, Long philtrum, Short stature, Thick lower lip vermilion...	OMIM:194050
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Optic atrophy, Choreoathetosis, Limb ataxia, Hyperkalemia, Difficul...	OMIM:617595
Sturge-Weber Syndrome	Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr...	ORPHA:3205
Oculocerebrocutaneous Syndrome	Iris coloboma, Corneal opacity	ORPHA:1647
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Wormian bones	OMIM:619638
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Delayed cranial suture closure, Wide anterior fontanel, Wide mouth, Coronal craniosynostosis, Mic...	ORPHA:85199
Dubowitz Syndrome	Delayed cranial suture closure, High palate, Wide anterior fontanel, Short stature, Delayed erupt...	ORPHA:235
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride...	OMIM:615812
Biotinidase Deficiency	Conjunctivitis, Optic atrophy, Ataxia, Hyperammonemia, Lethargy, Splenomegaly	OMIM:253260
Combined Oxidative Phosphorylation Deficiency 3	Cognitive impairment, Optic atrophy, Apathy, Ataxia, Elevated circulating creatine kinase concent...	OMIM:610505
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Micrognathia, Osteolysis, ...	ORPHA:955
Mucopolysaccharidosis Type 1	Splenomegaly, Retinopathy, Corneal opacity, Optic atrophy	ORPHA:579
Sanjad-Sakati Syndrome	Astigmatism, Hypocalcemia, Corneal opacity, Hyperphosphatemia	ORPHA:2323
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Gapo Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Eruption failure, Wid...	OMIM:230740
Sandhoff Disease	Exaggerated startle response, Progressive psychomotor deterioration, Ataxia	OMIM:268800
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Choreoathetosis, Abnormality of retinal pigmentation, Cataract, Abnormal retinal v...	ORPHA:2715
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Ocular albinism, Impaired platelet aggregation, Astigmatism, Hypop...	OMIM:614077
Charcot-Marie-Tooth Disease Type 4B2	Developmental glaucoma, Tip-toe gait, Optic atrophy, Inability to walk, Decreased distal sensory ...	ORPHA:99956
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Microcornea	ORPHA:2557
Neurofibromatosis Type 1	Spinal neurofibromas, Plexiform neurofibroma, Ataxia, Abnormality of retinal pigmentation, Pheoch...	ORPHA:636
Focal Dermal Hypoplasia	Cognitive impairment, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Corneal opacity, Cho...	ORPHA:2092
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Knee flexion contracture, Delayed cranial suture closure, Thick upper lip vermilion, Hip contract...	OMIM:210730
Spinocerebellar Ataxia Type 13	Gait ataxia, Optic atrophy, Titubation, Torticollis, Limb ataxia, Difficulty walking, Optic disc ...	ORPHA:98768
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Obesity, Overweight, Hypercholesterolemia	ORPHA:69663
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Tip-toe gait, Optic atrophy, Progressive gait ataxia, Emotional lability, Decreased ...	ORPHA:309256
Epithelial Recurrent Erosion Dystrophy	Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit...	ORPHA:293381
Tenorio Syndrome	Delayed cranial suture closure, Wide nose, Mandibular prognathia, Recurrent aphthous stomatitis, ...	OMIM:616260
Juvenile Nephropathic Cystinosis	Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to t...	ORPHA:411634
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Thrombocytopenia, ...	OMIM:618775
Scheie Syndrome	Splenomegaly, Abnormal nerve conduction velocity, Corneal opacity	ORPHA:93474
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Mandibular prognathia, Wide mouth, Increased bone mineral density...	ORPHA:2658
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Retinal dystrophy, Anemia	OMIM:266900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ...	OMIM:268315
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Progressive gait ataxia, Emotional lability, Decreased nerve conduction velocity, ...	ORPHA:309263
Granular Corneal Dystrophy Type Ii	Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ...	ORPHA:98963
Galactosialidosis	Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula, ...	OMIM:256540
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Small for gestational age, Pancytopenia, Lymphopenia, Astigma...	OMIM:242900
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Joint hypermobility, Disproportionate short-limb short stature, Osteoporosis...	OMIM:619131
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Coloboma, Corneal opacity, Conjunctival hyperemia	ORPHA:2399
Bickerstaff Brainstem Encephalitis	Mydriasis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous system...	ORPHA:79138
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Aggressive behavior, Keratoconjunctivitis sicca, Optic nerve hypoplasia, Buphthalmos, Corneal opa...	ORPHA:495875
Friedreich Ataxia	Gait ataxia, Gait imbalance, Falls, Inability to walk, Optic atrophy, Impaired visually enhanced ...	ORPHA:95
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, High palate, Acroosteolysis of distal phalanges (feet), Short stature, Limit...	ORPHA:90153
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Flexion contracture, High palate, Short stature, Depressed nasal bridge, Broad nasal tip, Antever...	OMIM:300232
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Dementia, Ataxia, Depression, Memory impairment	OMIM:604121
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei, Abnormality iris morphology	ORPHA:250999
Hereditary Amyloidosis With Primary Renal Involvement	Anemia, Weight loss, Hepatosplenomegaly, Decreased HDL cholesterol concentration, Decreased circu...	ORPHA:85450
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, T lymphocytopenia, Weight loss, B lymphocytopenia, Dec...	OMIM:619381
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis, Hyponatremia	ORPHA:178478
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Increased blood urea nitrogen, Anemia, Elevated circulating creatinine c...	ORPHA:230
Histiocytoid Cardiomyopathy	Megalocornea, Optic atrophy, Failure to thrive, Corneal opacity, Congenital aphakia, Lethargy	ORPHA:137675
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Convex nasal ridge, Narrow palate, Short stature, Prominent nasal...	ORPHA:794
Focal Dermal Hypoplasia	Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Myelomeningocele, Short stature, Cleft a...	OMIM:305600
Osteopetrosis, Autosomal Recessive 2	Anemia, Cranial nerve compression, Optic atrophy, Pancytopenia, Hepatosplenomegaly, Facial paraly...	OMIM:259710
Mucopolysaccharidosis Type 2, Severe Form	Retinopathy, Cognitive impairment, Abnormal foveal morphology, Optic atrophy, Abnormality of reti...	ORPHA:217085
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Chromosome 6Pter-P24 Deletion Syndrome	Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Peters anomaly, Opac...	OMIM:612582
Tyrosinemia Type 2	Tremor, Corneal opacity, Ataxia	ORPHA:28378
Mucopolysaccharidosis Type 2, Attenuated Form	Retinopathy, Cognitive impairment, Abnormal foveal morphology, Optic atrophy, Abnormality of reti...	ORPHA:217093
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Increased susceptibility to fractures, Sclerotic cranial sutures, Arthropathy, Arthritis, Pterygi...	ORPHA:371428
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteolytic defects of the phalanges of the hand, High palate, Arthropathy, Arthritis, Limitation ...	OMIM:259100
Fraser Syndrome 1	Underdeveloped nasal alae, Wide nose, Dental malocclusion, Choanal stenosis, Myelomeningocele, En...	OMIM:219000
Oligomeganephronia	Small for gestational age, Elevated circulating creatinine concentration, Optic disc coloboma	ORPHA:2260
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Granular Corneal Dystrophy Type I	Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c...	ORPHA:98962
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Noonan Syndrome 1	Dental malocclusion, High palate, Short stature, Micrognathia, Synovitis, Cubitus valgus, Cleft p...	OMIM:163950
Infantile Nephropathic Cystinosis	Aminoaciduria, Cognitive impairment, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal bl...	ORPHA:411629
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Cerebrotendinous Xanthomatosis	Aggressive behavior, Cognitive impairment, Abnormality of somatosensory evoked potentials, Restin...	ORPHA:909
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Optic atrophy, Gait disturbance, Ataxia, Failure to thrive, Splenomegaly,...	OMIM:230600
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Dislocated radial ...	OMIM:268310
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Anemia, Optic atrophy, Gait disturbance, Ataxia, Failure to thrive, Pigmentary ret...	ORPHA:436271
Wrinkly Skin Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, High palate, Wide ant...	OMIM:278250
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Decreased body weight, Elevated circulating alpha-fetoprotein concentration, Dec...	OMIM:615273
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
Aymé-Gripp Syndrome	Delayed cranial suture closure, Long philtrum, Short stature, Oligodontia, Camptodactyly, Radioul...	ORPHA:1272
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Optic atrophy, Writer's cramp, Emotional lability, Depression, Anxiety, Hypoca...	ORPHA:428
Monosomy 22Q13.3	Dental malocclusion, Hyperactivity, Wide nasal bridge, Dental crowding, Malar flattening, Bulbous...	ORPHA:48652
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Optic atrophy, Ataxia, Hypochromic microcytic anemia, Elevated ci...	ORPHA:66634
Mucopolysaccharidosis Type 4	Cognitive impairment, Gait disturbance, Corneal opacity	ORPHA:582
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus, Intrauterine growth retardation	ORPHA:3376
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macular hypoplasia, Iris coloboma, Optic atrophy	OMIM:615219
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea	ORPHA:284160
Cerebrocostomandibular Syndrome	Meningocele, Myelomeningocele, Short stature, Spina bifida, Hydranencephaly, Intrauterine growth ...	ORPHA:1393
Pseudo-Torch Syndrome 1	Opacification of the corneal stroma, Failure to thrive, Cataract, Thrombocytopenia, Dystonia, Spl...	OMIM:251290
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Splenomegaly, Decreased LDL cholesterol concentration, Lingual dystonia, Inability to walk, Cone/...	ORPHA:404454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:253800
Retinitis Pigmentosa 74	Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary retinopathy	OMIM:616562
3Q29 Microduplication Syndrome	Aniridia, Iris coloboma, Cataract, Obesity, Sclerocornea	ORPHA:251038
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Anemia, Cachexia, Limb ataxia, Pancytopenia, Hepatosplenomegaly, Abnormality of the...	ORPHA:2072
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Pituitary Apoplexy	Increased circulating cortisol level, Normochromic anemia, Mydriasis, Hyponatremia	ORPHA:95613
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis	OMIM:619281
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Wrinkly Skin Syndrome	Delayed closure of the anterior fontanelle, High palate, Generalized joint laxity, Short stature,...	ORPHA:2834
Fumarase Deficiency	Aminoaciduria, Optic atrophy, Hyperbilirubinemia, Polycythemia, Failure to thrive	OMIM:606812
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Ayme-Gripp Syndrome	Delayed cranial suture closure, Mandibular prognathia, Long philtrum, Wide nasal bridge, Short st...	OMIM:601088
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Genu valgum, Fle...	OMIM:619127
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased corneal thickness, Abnormal optic disc morphology, Congenital stationary night blindnes...	ORPHA:293967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Megalocornea, Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Retinal degener...	OMIM:253280
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Delayed cranial suture closure, Micrognathia, Short nose	ORPHA:1129
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Short stature, Spina bifida occulta, Intrauterine growth retardation, Umbilical hernia	ORPHA:2311
Bietti Crystalline Corneoretinal Dystrophy	Retinal degeneration, Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy	OMIM:210370
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Joubert Syndrome 1	Aggressive behavior, Optic disc pallor, Retinal dystrophy, Ataxia, Retinal dysplasia, Chorioretin...	OMIM:213300
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension, Ataxia	OMIM:615510
Osteogenesis Imperfecta, Type I	Increased susceptibility to fractures, Dentinogenesis imperfecta, Recurrent fractures, Joint hype...	OMIM:166200
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ...	ORPHA:98969
Retinitis Pigmentosa 49	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613756
Dpagt1-Cdg	Anemia, Rod-cone dystrophy, Aggressive behavior, Head-banging, Optic atrophy, Inability to walk, ...	ORPHA:86309
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Cataract, Hyponatremia,...	OMIM:617913
Facial Spasm	Anisocoria	OMIM:134300
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma, Xanthelasma, Decreased HDL cholesterol concentration, Abnorm...	ORPHA:425
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Weight loss, Liver abscess, Neutrophilia, Elevated circulating C-reactive ...	ORPHA:54251
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea	ORPHA:1806
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Ogden Syndrome	Delayed cranial suture closure, Thick upper lip vermilion, Everted upper lip vermilion, Wide nasa...	OMIM:300855
Fraser Syndrome	Underdeveloped nasal alae, Dental malocclusion, Cleft upper lip, Myelomeningocele, Encephalocele,...	ORPHA:2052
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity, Ataxia	OMIM:253010
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Gait ataxia, Elevated circulating acylcarnitine concentration, Optic atrophy, Gait disturbance, A...	OMIM:616878
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei...	OMIM:613095
Cdags Syndrome	Delayed cranial suture closure, Sagittal craniosynostosis, Coronal craniosynostosis, Large fontan...	OMIM:603116
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract	ORPHA:3301
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Hand tremor, Gait disturbance, Steppage gait, Optic ne...	ORPHA:101076
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Oculodentodigital Dysplasia	Optic atrophy, Gait disturbance, Ataxia, Microcornea, Cataract, Abnormality iris morphology	ORPHA:2710
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity	OMIM:607015
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Carpenter Syndrome 1	Optic atrophy, Polysplenia, Microcornea, Opacification of the corneal stroma, Obesity	OMIM:201000
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Ataxia, Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy	OMIM:610651
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Biliary, Renal, Neurologic, And Skeletal Syndrome	Coloboma, Hyperbilirubinemia, Failure to thrive, Increased circulating ferritin concentration, Hy...	OMIM:619534
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology, Ectopia pupillae	OMIM:618223
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Multiple System Atrophy 1, Susceptibility To	Cognitive impairment, Abnormal autonomic nervous system physiology, Ataxia, Tremor, Iris atrophy,...	OMIM:146500
Hennekam-Beemer Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Wide nose, High palate, Wide nasal bridg...	ORPHA:2135
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Enlarged peripheral nerve, Hyperch...	OMIM:151660
Cockayne Syndrome Type 3	Retinal hemorrhage, Splenomegaly, Abnormality of peripheral nerve conduction, Cognitive impairmen...	ORPHA:90324
Triosephosphate Isomerase Deficiency	Hemolytic anemia, Normocytic anemia, Failure to thrive, Chronic hemolytic anemia, Tremor, Macrocy...	OMIM:615512
Biotinidase Deficiency	Conjunctivitis, Optic atrophy, Ataxia, Hyperammonemia, Optic neuropathy, Lethargy	ORPHA:79241
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Immunodeficiency 49	Natal tooth, Micrognathia, Short philtrum, Umbilical hernia, Wormian bones	OMIM:617237
Igg4-Related Retroperitoneal Fibrosis	Weight loss, Normocytic anemia, Increased blood urea nitrogen, Elevated circulating C-reactive pr...	ORPHA:49041
Proboscis Lateralis	Microcornea, Optic nerve hypoplasia, Iris coloboma, Cataract, Corneal opacity, Chorioretinal colo...	ORPHA:141099
Phace Syndrome	Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia, Iris coloboma, Heterochromi...	ORPHA:42775
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Protrusio acetabuli, Rhizomelia, Short stature, Recurrent fractur...	OMIM:610682
Corneal Endothelial Dystrophy	Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat...	OMIM:217700
Loeys-Dietz Syndrome 3	Retrognathia, Protrusio acetabuli, Dental malocclusion, High palate, Hip osteoarthritis, Osteocho...	OMIM:613795
Xeroderma Pigmentosum	Aminoaciduria, Cognitive impairment, Optic atrophy, Pterygium, Ataxia, Failure to thrive, Catarac...	ORPHA:910
Czeizel-Losonci Syndrome	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida	ORPHA:2437
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Pigmentary retinopathy, Sclerocornea	OMIM:614230
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Le...	ORPHA:36238
Intestinal Botulism	Mydriasis	ORPHA:178481
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Simpson-Golabi-Behmel Syndrome, Type 1	Dental malocclusion, Mandibular prognathia, Narrow palate, Wide nasal bridge, Exaggerated median ...	OMIM:312870
Spondylodysplastic Ehlers-Danlos Syndrome	Megalocornea, Optic nerve hypoplasia, Posterior subcapsular cataract, Iris coloboma, Corneal opac...	ORPHA:536471
Marshall-Smith Syndrome	Irregular dentition, Microdontia, Gingival overgrowth, Glossoptosis, Choanal atresia, Recurrent f...	OMIM:602535
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Incontinentia Pigmenti	Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Uveitis, Hypoplasia of the fov...	OMIM:308300
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
Microphthalmia With Linear Skin Defects Syndrome	Posterior embryotoxon, Vitritis, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal ...	ORPHA:2556
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Micrognathia, Microdontia, Depressed nasal tip, Depressed nasal b...	OMIM:620005
Fountain Syndrome	Spina bifida occulta, Short stature, Spina bifida	ORPHA:3219
Fucosidosis	Failure to thrive, Corneal opacity	ORPHA:349
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Dyggve-Melchior-Clausen Disease	Corneal opacity, Failure to thrive, Difficulty walking, Inability to walk	ORPHA:239
Atopic Keratoconjunctivitis	Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis	ORPHA:163934
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Asplenia, Optic atrophy, Inability to walk, Aganglionic megacolon, Hap...	ORPHA:261552
Schinzel-Giedion Midface Retraction Syndrome	Metopic suture patent to nasal root, Choanal stenosis, Increased density of long bones, Macroglos...	OMIM:269150
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reactive protein c...	ORPHA:829
Joubert Syndrome 14	Meningocele, Hydrocephalus, Encephalocele, Growth delay	OMIM:614424
Encephalocraniocutaneous Lipomatosis	Iris coloboma, Retinopathy, Corneal opacity	ORPHA:2396
Mowat-Wilson Syndrome	Aganglionic megacolon, Happy demeanor, Microcornea, Iris coloboma, Cataract, Chorioretinal colobo...	OMIM:235730
Wound Botulism	Mydriasis	ORPHA:178475
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity	ORPHA:584
Rodrigues Blindness	Sclerocornea, Microcornea	OMIM:268320
Pelvis-Shoulder Dysplasia	Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly...	ORPHA:2839
Neuroocular Syndrome	Brushfield spots, Anxiety, Lens coloboma, Microcornea, Hypoplasia of the fovea, Iris coloboma, Pe...	OMIM:619539
Weill-Marchesani Syndrome 4	Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb...	OMIM:613195
Herpes Simplex Virus Encephalitis	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia	ORPHA:1930
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc...	ORPHA:63259
Chime Syndrome	Acute leukemia, Corneal opacity, Retinal coloboma	ORPHA:3474
Wolfram Syndrome 2	Depression, Optic neuropathy, Impaired collagen-induced platelet aggregation, Optic atrophy	OMIM:604928
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy	OMIM:619727
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Al-Gazali Syndrome	Failure to thrive, Corneal opacity, Sclerocornea	OMIM:609465
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Abnormal lens morphology, Optic atrophy	ORPHA:363417
De Sanctis-Cacchione Syndrome	Conjunctivitis, Optic atrophy, Choreoathetosis, Ataxia, Scissor gait, Mental deterioration, Kerat...	OMIM:278800
Hyperparathyroidism, Transient Neonatal	Short nasal bridge, Recurrent fractures, Wide nasal bridge, Wide cranial sutures, Fractured rib, ...	OMIM:618188
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Obesity, Difficulty walking	OMIM:618653
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut...	OMIM:187900
Mucopolysaccharidosis, Type Vii	Splenomegaly, Corneal opacity	OMIM:253220
Multiple Myeloma	Anemia, Weight loss, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinem...	ORPHA:29073
Joubert Syndrome 8	Obesity, Optic disc pallor, Pigmentary retinopathy, Ataxia	OMIM:612291
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Increased circulating cortisol level	ORPHA:3453
Alg9-Cdg	Delayed cranial suture closure, Underdeveloped nasal alae, Convex nasal ridge, Abnormal bone ossi...	ORPHA:79328
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, W...	ORPHA:98849
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Inhalational Botulism	Mydriasis	ORPHA:254504
Meckel Syndrome	Asplenia, Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, Micro...	ORPHA:564
Multisystemic Smooth Muscle Dysfunction Syndrome	Retinal infarction, Mydriasis	OMIM:613834
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Optic atrophy, Aganglionic megacolon, Iris coloboma, Cataract, Elevated ...	ORPHA:818
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Peters anomaly, Cataract, Pigmentary retinopathy, Sclerocornea	OMIM:309801
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Menkes Disease	Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Micrognathia, Wormian bones, Osteoporosis,...	ORPHA:565
Botulism	Mydriasis	ORPHA:1267
Microphthalmia, Syndromic 3	Coloboma, Optic nerve aplasia, Optic nerve hypoplasia, Cataract, Sclerocornea	OMIM:206900
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Aminoaciduria, Failure to thrive in infancy, Retinopathy, Splenomega...	OMIM:219800
Scalp-Ear-Nipple Syndrome	Anisocoria, Iris coloboma, Developmental cataract, Cataract	OMIM:181270
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Wormian bones	OMIM:601356
Mucopolysaccharidosis Type 6	Failure to thrive, Opacification of the corneal stroma, Cognitive impairment, Splenomegaly	ORPHA:583
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Short stature	ORPHA:2031
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Cognitive impairment	OMIM:617527
Foodborne Botulism	Mydriasis	ORPHA:228371
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Flexion contracture, Wide nasal bridge, Micrognathia, Epiphyseal stippling, Ca...	ORPHA:96334
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Optic atrophy, Ataxia, Hepatosplenomegaly, Pancytopenia, Lymphopenia, Elevate...	OMIM:615688
Lathosterolosis	Opacification of the corneal stroma, Anisopoikilocytosis, Microcornea, Failure to thrive, Catarac...	ORPHA:46059
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Mosaic Trisomy 9	Asplenia, Corneal opacity	ORPHA:99776
Von Hippel-Lindau Disease	Adrenal pheochromocytoma, Macular edema, Anxiety, Pancreatic endocrine tumor, Retinal capillary h...	ORPHA:892
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Autosomal Dominant Optic Atrophy And Cataract	Postural tremor, Optic atrophy, Resting tremor, Cerulean cataract, Ataxia, Anterior subcapsular c...	ORPHA:67036
Wolf-Hirschhorn Syndrome	Retinopathy, Megalocornea, Optic atrophy, Ataxia, Failure to thrive, Iris coloboma, Sclerocornea	ORPHA:280
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Anemia, Hyperuricemia	OMIM:174000
Sifrim-Hitz-Weiss Syndrome	Short stature, Fused cervical vertebrae, Flat acetabular roof, Bifid uvula, Wormian bones	OMIM:617159
Xq21 Microdeletion Syndrome	Gait ataxia, Optic atrophy, Dysdiadochokinesis, Choroideremia, Abnormal chorioretinal morphology,...	ORPHA:1435
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Retina...	ORPHA:2785
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Failure to thr...	OMIM:617099
Occipital Horn Syndrome	Delayed cranial suture closure, Genu valgum, Long philtrum, Osteomalacia, Hip dislocation, Abnorm...	ORPHA:198
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Genu valgum, Obt...	OMIM:309350
Scorpion Envenomation	Mydriasis, Hypokalemia, Ataxia, Increased circulating NT-proBNP concentration, Tremor, Increased ...	ORPHA:466677
Thrombocytopenia-Absent Radius Syndrome	Anemia, Hepatosplenomegaly, Cataract, Corneal opacity, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:274000
Hyperoxaluria, Primary, Type I	Retinopathy, Optic atrophy, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Hyp...	OMIM:259900
Psoriasis 14, Pustular	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:614204
Fryns Syndrome	Aganglionic megacolon, Corneal opacity	ORPHA:2059
Witteveen-Kolk Syndrome	Aggressive behavior, Small for gestational age, Conspicuously happy disposition, Iris coloboma, C...	OMIM:613406
African Trypanosomiasis	Conjunctivitis, Aggressive behavior, Akinesia, Abnormality of circulating cortisol level, Weight ...	ORPHA:3385
Tropical Endomyocardial Fibrosis	Cachexia, Splenomegaly, Eosinophilia, Hypoalbuminemia	ORPHA:75565
Hunter-Macdonald Syndrome	Delayed cranial suture closure, Joint contracture of the hand, Short stature, Camptodactyly, Shor...	OMIM:611962
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Camptodactyly, Dysphagia, Sclerosis of skull base, Broad...	ORPHA:798
Arnold-Chiari Malformation Type Ii	Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis	ORPHA:1136
Phace Association	Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal...	OMIM:606519
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Anemia, Decreased body weight, Hyperkalemia, Leukocytosis, Elevated circulatin...	ORPHA:340
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia	ORPHA:391665
Neurocardiofaciodigital Syndrome	Small for gestational age, Failure to thrive, Cataract, Optic disc pallor, Sclerocornea	OMIM:619869
D-Bifunctional Protein Deficiency	Delayed cranial suture closure, Retrognathia, High palate, Long philtrum, Micrognathia, Depressed...	OMIM:261515
Neu-Laxova Syndrome 2	Spina bifida, Intrauterine growth retardation	OMIM:616038
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Pmm2-Cdg	Rod-cone dystrophy, Impaired neutrophil chemotaxis, Ataxia, Failure to thrive, Cataract, Reduced ...	ORPHA:79318
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Convex nasal ridge, Narrow palate, Short stature, Coronal cranios...	OMIM:101400
Vacterl With Hydrocephalus	Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation	ORPHA:3412
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Retrognathia, Cleft upper lip, High palate, Depressed nasal ridge...	OMIM:105650
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif...	OMIM:107250
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Elevated circulating C-reactive protein concentration, Failure to thrive in infancy...	OMIM:612852
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Cocaine Intoxication	Tremor, Mydriasis, Elevated circulating creatine kinase concentration	ORPHA:90068
Wolf-Hirschhorn Syndrome	Rieger anomaly, Small for gestational age, Failure to thrive, Iris coloboma, Accessory spleen, Ec...	OMIM:194190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Opacification of the corneal stroma, Retinal dysplasia, Elevated circulati...	OMIM:615287
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Truncal ataxia, Optic disc hypoplasia, Ataxia, Failure to thrive, Cataract, Tremor...	ORPHA:3455
Leptospirosis	Retinal hemorrhage, Chorioretinitis, Conjunctival hyperemia, Uveitis, Optic neuritis, Thrombocyto...	ORPHA:509
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Moebius Syndrome	Corneal opacity, Facial palsy	ORPHA:570
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Corneal neovascularization, Cataract, Eosinophilia, Opacification of the co...	OMIM:158310
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Curry-Jones Syndrome	Lip pit, Lipomyelomeningocele, Unicoronal synostosis, Bicoronal synostosis, Occipital meningocele...	OMIM:601707
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Primary Hyperoxaluria	Retinopathy, Optic atrophy, Optic disc pallor, Choroidal neovascularization, Failure to thrive, H...	ORPHA:416
Acromelic Frontonasal Dysplasia	Meningocele, Encephalocele	ORPHA:1827
Yunis-Varon Syndrome	Gingival recession, Short upper lip, Broad secondary alveolar ridge, Short stature, Glossoptosis,...	ORPHA:3472
Axenfeld-Rieger Syndrome, Type 2	Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea	OMIM:601499
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Azotemia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Abdominal obesity	OMIM:619321
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hip dislocation, Joint hypermobility, Joint subluxation,...	OMIM:617821
Autosomal Recessive Cutis Laxa Type 1	Delayed cranial suture closure, Wide anterior fontanel, Hip dislocation, Joint laxity, Severe sho...	ORPHA:90349
Kleefstra Syndrome Due To 9Q34 Microdeletion	Echolalia, Apathy, Depression, Anxiety, Irritability, Agenesis of corpus callosum	ORPHA:96147
Pineoblastoma	Retinoblastoma, Cognitive impairment, Progressive neurologic deterioration, Lethargy, Papilledema...	ORPHA:251909
Otopalatodigital Syndrome, Type Ii	Delayed closure of the anterior fontanelle, Wide anterior fontanel, Short stature, Spina bifida, ...	OMIM:304120
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Delayed cranial suture closure, Exencephaly, Encephalocele, Depressed nasal ridge, Wide nasal bri...	ORPHA:2211
Osteopetrosis, Autosomal Recessive 7	Anemia, Optic nerve compression, Optic atrophy, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Mosaic Variegated Aneuploidy Syndrome	Cataract, Acute lymphoblastic leukemia, Corneal opacity	ORPHA:1052
Hyper-Igd Syndrome	Rod-cone dystrophy, Neutrophilia, Hepatosplenomegaly, Leukocytosis, Optic disc pallor, Splenomegaly	OMIM:260920
Plaa-Associated Neurodevelopmental Disorder	Delayed speech and language development, Exaggerated startle response, Dystonia	ORPHA:521426
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Optic atrophy	OMIM:201180
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Trisomy 18	Short stature, Spina bifida, Anencephaly, Holoprosencephaly, Growth delay, Intrauterine growth re...	ORPHA:3380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Corneal erosion, Aganglionic megacolon, Uveitis, Dementia, Astigmatism, Failure t...	ORPHA:2273
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Delayed cranial suture closure, Distal arthrogryposis, Joint dislocation, High palate, Generalize...	OMIM:601776
Mucopolysaccharidosis, Type Vi	Splenomegaly, Corneal opacity	OMIM:253200
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Yellow Fever	Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi...	ORPHA:99829
Coffin-Siris Syndrome 12	Delayed cranial suture closure, Hip subluxation, Underdeveloped nasal alae, High palate, Short st...	OMIM:619325
Sweet Syndrome	Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat...	ORPHA:3243
Peters Plus Syndrome	Optic atrophy, Anterior chamber synechiae, Microcornea, Iris coloboma, Peters anomaly, Cataract, ...	ORPHA:709
Plague	Mydriasis, Depression, Anxiety, Unsteady gait, Splenomegaly, Conjunctival hyperemia	ORPHA:707
Lumbar Syndrome	Spina bifida, Myelomeningocele	ORPHA:83628
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Megalocornea, Tip-toe gait, Failure to thrive, Opacification...	OMIM:252500
Alzahrani-Kuwahara Syndrome	Tip-toe gait, Astigmatism, Cataract, Optic disc pallor, Self-mutilation	OMIM:619268
Pyknoachondrogenesis	Depressed nasal ridge, Poorly ossified vertebrae, Abnormal intramembranous ossification, Craniofa...	ORPHA:3003
Autosomal Dominant Cutis Laxa	Delayed cranial suture closure, Hip dislocation, Joint laxity, Wormian bones, Osteopenia, Intraut...	ORPHA:90348
Oculoectodermal Syndrome	Limbal dermoid, Microcornea, Astigmatism, Chorioretinal atrophy, Opacification of the corneal stroma	OMIM:600268
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Coloboma, Facial palsy, Abnormal optic disc morphology, Optic nerve hypoplasia, Iris coloboma, Re...	ORPHA:508498
Crimean-Congo Hemorrhagic Fever	Conjunctivitis, Retinal hemorrhage, Leukopenia, Neutrophilia, Emotional lability, Elevated circul...	ORPHA:99827
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Absent anterior chamber of the eye, Exudative retinopathy, Vitreoretinopat...	OMIM:259770
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma, Waddling gait	OMIM:253000
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, High palate, Long philtrum, Short stature, Glossoptosis, Micrognathia, Macroglos...	ORPHA:444077
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Asparagine Synthetase Deficiency	Exaggerated startle response	OMIM:615574
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Occipital encep...	ORPHA:397715
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Sclerocornea	OMIM:300952
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Granulomatosis	ORPHA:93126
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Weill-Marchesani Syndrome 2	Lens luxation, Ectopia lentis, Astigmatism, Shallow anterior chamber, Cataract, Microspherophakia...	OMIM:608328
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Bipolar affective disorder, Thrombocytop...	OMIM:188400
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Macroglossia, L...	ORPHA:226307
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Decreased body weight, Pigmentary retinopathy	OMIM:266270
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Hypokalemia, Keratoconus, Cognitive impairment	ORPHA:286
Neu-Laxova Syndrome	Spina bifida, Intrauterine growth retardation	ORPHA:2671
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Pagod Syndrome	Meningocele, Short stature, Encephalocele, Spina bifida	ORPHA:991
Phocomelia, Schinzel Type	Meningocele, Disproportionate short stature, Intrauterine growth retardation	ORPHA:2879
Larsen Syndrome	Corneal opacity	OMIM:150250
Limb Body Wall Complex	Lens subluxation, Iris coloboma, Corneal opacity	ORPHA:2369
Nail-Patella Syndrome	Spina bifida, Short stature	OMIM:161200
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele	OMIM:193500
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Weight loss, Elevated circulating C-reactive protein con...	ORPHA:449395
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Joint dislocation, Microdontia, Hip dislocation, Abnormality of the wrist, Limitation...	ORPHA:285
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma, Cyclopia, Chorioretinal coloboma	OMIM:157170
1P36 Deletion Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Depressed nasal ridge, Short stature, Wi...	ORPHA:1606
Cloacal Exstrophy	Spina bifida, Myelomeningocele	ORPHA:93929
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	OMIM:249100
Ablepharon Macrostomia Syndrome	Corneal opacity, Corneal erosion	ORPHA:920
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Failure to thrive, Corneal opacity	OMIM:608670
Gaucher Disease, Type Iiic	Opacification of the corneal stroma, Splenomegaly, Pancytopenia	OMIM:231005
Kleefstra Syndrome 1	Tracheobronchomalacia, Mandibular prognathia, Natal tooth, Macroglossia, Everted lower lip vermil...	OMIM:610253
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Hutchinson-Gilford Progeria Syndrome	Shuffling gait, Weight loss, Severe failure to thrive, Corneal opacity, Corneal ulceration	ORPHA:740
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Fibular Hemimelia	Spina bifida	ORPHA:93323
Yunis-Varon Syndrome	Micrognathia, Hypoplastic facial bones, Hip dislocation, Absent sternal ossification, Large fonta...	OMIM:216340
Neonatal Marfan Syndrome	Small for gestational age, Megalocornea, Iridodonesis, Ectopia lentis	ORPHA:284979
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Orofaciodigital Syndrome Vi	Arrhinencephaly, Occipital meningocele, Short stature	OMIM:277170
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Stuve-Wiedemann Syndrome 1	Abnormal autonomic nervous system physiology, Opacification of the corneal stroma	OMIM:601559
22Q11.2 Deletion Syndrome	Meningocele, Short stature, Spina bifida, Arrhinencephaly, Hydrocephalus, Occipital myelomeningoc...	ORPHA:567
Neurofibromatosis, Type I	Spina bifida, Hydrocephalus, Aqueductal stenosis, Short stature	OMIM:162200
Microphthalmia, Syndromic 6	Coloboma, Retinal dystrophy, Microcornea, Failure to thrive, Sclerocornea	OMIM:607932
Jacobsen Syndrome	Spina bifida, Growth delay, Intrauterine growth retardation, Short stature	ORPHA:2308
Basal Cell Nevus Syndrome 1	Spina bifida, Hydrocephalus	OMIM:109400
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Neonatal death, ...	OMIM:256520
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Growth delay, Intrauterine growth retardation, Umbili...	ORPHA:84
Kleefstra Syndrome Due To A Point Mutation	Short stature, Natal tooth, Thick lower lip vermilion, Tracheomalacia, Umbilical hernia, Abnormal...	ORPHA:261652
Holoprosencephaly 7	Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho...	OMIM:610828
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Inability to walk, Absent speech, Receptive language delay, Dystoni...	ORPHA:438213
Pallister-Killian Syndrome	Delayed cranial suture closure, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth...	OMIM:601803
Bartsocas-Papas Syndrome 1	Pterygium, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma, Corneal ...	OMIM:263650
Split Cord Malformation	Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele	ORPHA:573278
Roberts-Sc Phocomelia Syndrome	Coloboma, Cataract, Accessory spleen, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Aicardi Syndrome	Spina bifida, Postnatal growth retardation	OMIM:304050
Campomelic Dysplasia	Spinal dysraphism, Spina bifida, Hydrocephalus, Disproportionate short-limb short stature, Neonat...	OMIM:114290
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Fryns Syndrome	Aganglionic megacolon, Opacification of the corneal stroma, Polysplenia, Large for gestational age	OMIM:229850
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Hydrocephalus, Postnatal growth retardation	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Hydrocephalus, Postnatal growth retardation	ORPHA:363958
Medulloblastoma	Delayed cranial suture closure	ORPHA:616
Vater/Vacterl Association	Spina bifida, Patent urachus, Occipital encephalocele, Intrauterine growth retardation, Postnatal...	OMIM:192350
Arima Syndrome	Occipital meningocele, Growth delay	OMIM:243910
Marfan Syndrome	Meningocele	ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Delayed speech and language development, Exaggerated startle response	OMIM:619522
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Corneal neovascularization, Keratitis, Opacification of the corneal stroma...	OMIM:308205
Exstrophy-Epispadias Complex	Spina bifida, Hydrocephalus	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Disproportionate short stature, Occipital meningocele	OMIM:276820

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 Ehmt1

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 Ehmt1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ehmt1^{tm1b(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ehmt1^{tm1b(EUCOMM)Wtsi} Ehmt1^{tm1b(EUCOMM)Wtsi}	PMC6671969

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MGI Allele	Allele Type	Produced
Ehmt1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ehmt1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ehmt1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

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