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Gene: Rsph9 MGI:1922814

Gene Summary

Name:

radial spoke head 9 homolog (Chlamydomonas)

Synonyms:

1700027N10Rik

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
preweaning lethality, incomplete penetrance	Rsph9^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal behavior	Rsph9^{tm1.1(KOMP)Vlcg}	HET	Early adult	4.85×10^-06
increased thigmotaxis	Rsph9^{tm1.1(KOMP)Vlcg}	HET	Early adult	4.84×10^-06
hyperactivity	Rsph9^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.09×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	50% (1 of 2)
Brain	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Thyroid gland	Section images	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Adult LacZ

LacZ Images Section

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

4 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Human diseases caused by Rsph9 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 Rsph9 (2 diseases)
Human diseases predicted to be associated with Rsph9 (1014 diseases)

The table below shows human diseases associated to Rsph9 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 12		Decreased nasal nitric oxide, Bronchiectasis, Short stature, Abnormal central microtubular pair m...	OMIM:612650
Primary Ciliary Dyskinesia		Asplenia, Respiratory failure, Ventriculomegaly, Bronchiectasis, Productive cough, Polysplenia, H...	ORPHA:244

The table below shows human diseases predicted to be associated to Rsph9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Schizophrenia 15	Hyperactivity	OMIM:613950
Severe Primary Trimethylaminuria	Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity	ORPHA:468726
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Atypical Teratoid Rhabdoid Tumor	Macrocephaly, Hydrocephalus, Apathy, Muscle weakness, Reduced consciousness/confusion, Irritability	ORPHA:99966
Intellectual Developmental Disorder, Autosomal Recessive 2	Attention deficit hyperactivity disorder, Self-injurious behavior	OMIM:607417
Obsessive-Compulsive Disorder	Skin-picking, Depression, Anxiety	OMIM:164230
Methylmalonic Acidemia With Homocystinuria	Skin rash, Hydrocephalus, Failure to thrive, Microcephaly, Lethargy	ORPHA:26
Smith-Magenis syndrome	Hyperactivity, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:619031
Leptin Receptor Deficiency	Aggressive behavior, Decreased response to growth hormone stimulation test, Short stature, Abnorm...	OMIM:614963
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity	OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior	ORPHA:356996
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Astrocytosis, Gliosis, Increased CSF protein concentration, Respi...	ORPHA:204
Megalencephaly, Autosomal Dominant	Macrocephaly, Hydrocephalus	OMIM:155350
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Astrocytosis, Macrocephaly, Ventriculomegaly	OMIM:611087
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Macrocephaly, Ventriculomegaly	OMIM:615938
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Increased CSF protein concentration, Apathy, Emotional lability, Muscle weakness, C...	ORPHA:282166
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Macrocephaly, Microcephaly, Ventriculomegaly	OMIM:618709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Macrocephaly, Ventriculomegaly	OMIM:615937
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Growth delay, Microcephaly, Lethargy, Agenesis of corpus callosum	OMIM:274270
Mitochondrial Complex I Deficiency, Nuclear Type 6	Respiratory insufficiency, Failure to thrive, Lethargy, Ventriculomegaly	OMIM:618228
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior...	ORPHA:54595
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:70593
Lissencephaly 4	Short stature, Primary microcephaly, Growth delay, Agenesis of corpus callosum, Colpocephaly	OMIM:614019
Dopa-Responsive Dystonia	Delayed myelination, Ventriculomegaly, Fatigable weakness, Emotional lability, Abnormal CSF biopt...	ORPHA:255
Leukoencephalopathy With Vanishing White Matter 1	Cerebral hypomyelination, CNS demyelination, Macrocephaly, Cessation of head growth, Emotional la...	OMIM:603896
Mitochondrial Complex I Deficiency, Nuclear Type 5	Respiratory insufficiency, Ophthalmoplegia, Leukodystrophy, Apnea, Failure to thrive, Progressive...	OMIM:618226
Methylcobalamin Deficiency Type Cble	Delayed myelination, Ventriculomegaly, Neutropenia, Drowsiness, Hydrocephalus, Pancytopenia, Fail...	ORPHA:2169
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Macrocephaly, Microretrognathia, Delayed CNS myelination, Microcephaly, Self-mutil...	OMIM:300884
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Small for gestational age, Apneic episodes precipitated by illness, fatigue, st...	OMIM:312170
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Mild fetal ventriculomegaly, Lethargy, Neonatal death, Agenesis of cor...	OMIM:610498
Masa Syndrome	Ventriculomegaly, Short stature, Hydrocephalus, Macrocephaly, Microcephaly, Agenesis of corpus ca...	OMIM:303350
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability	OMIM:234500
Behavioral Variant Of Frontotemporal Dementia	Aggressive behavior, Emotional blunting, Apathy, Abulia, Astrocytosis, Irritability	ORPHA:275864
Chudley-Mccullough Syndrome	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum	OMIM:604213
Pelizaeus-Merzbacher Disease	Congenital laryngeal stridor, Sudanophilic leukodystrophy, Short stature, Abnormal CNS myelinatio...	OMIM:312080
Immunodeficiency 102	Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre...	OMIM:301082
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Progressive Multifocal Leukoencephalopathy	Oculomotor nerve palsy, CNS demyelination, Decreased proportion of CD8-positive T cells, Abnormal...	ORPHA:217260
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia, Hydrocephalus, Rhizomelia, Agenesis of corpus callosum	OMIM:166990
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Sinusitis, Otitis media, Decr...	OMIM:312863
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Isolated Agammaglobulinemia	Anemia, Short stature, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnormality of ...	ORPHA:229717
Duplication Of The Pituitary Gland	Retrognathia, Encephalocele, Decreased body weight, Short stature, Supernumerary tooth, Abnormal ...	ORPHA:314621
Glycine Encephalopathy	Lethargy, Aggressive behavior, Irritability, Agenesis of corpus callosum	OMIM:605899
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni...	OMIM:612444
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Inflammatory abnormality of the sk...	ORPHA:277
Gaba-Transaminase Deficiency	Retrognathia, Leukodystrophy, Lethargy, Agenesis of corpus callosum	OMIM:613163
Alg13-Cdg	Poor head control, Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Muscle weakness, Distal muscle weakness, Lethargy, Increased CSF lactate	OMIM:613710
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Glut1 Deficiency Syndrome 1	Hypoglycorrhachia, Paroxysmal lethargy, Secondary microcephaly, Confusion, Lethargy	OMIM:606777
Amoebiasis Due To Free-Living Amoebae	Oculomotor nerve palsy, Increased red blood cell count, Infectious encephalitis, Coma, Granuloma,...	ORPHA:68
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Lower limb muscle weakness, Failure to thrive, Astrocytosis, Upper limb mu...	ORPHA:225154
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu...	OMIM:613502
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Anemia, Hydrocephalus, Delayed CNS myelination, Partial agenesis of the corp...	OMIM:619302
Immunodeficiency 83, Susceptibility To Viral Infections	Confusion, Lethargy, Herpes simplex encephalitis, Gliosis	OMIM:613002
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Macrocephaly, Ventriculomegaly	OMIM:611808
Central Neurocytoma	Coma, Lethargy, Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Pandas	Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A...	ORPHA:66624
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Apathy, Astrocytosis, Aggressive behavior	OMIM:600795
Alexander Disease	Drowsiness, Apathy, Hydrocephalus, Diffuse demyelination of the cerebral white matter, Increased ...	OMIM:203450
Intellectual Developmental Disorder, X-Linked 109	Impulsivity, Hyperactivity, Aggressive behavior, Agitation	OMIM:309548
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Severe Canavan Disease	Poor head control, Lethargy, Macrocephaly, Irritability	ORPHA:314911
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Ventriculomegaly, Abnormal myelination, Partial agenesis of the corpus callosum, Pneumonia, Agene...	ORPHA:85179
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Failure to thrive, Microcephaly, Lethargy, Intrauterine growth retardation	ORPHA:26792
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, R...	OMIM:612692
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
X-Linked Agammaglobulinemia	Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Short stature, Weight loss, Hepatitis, Skin r...	ORPHA:47
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypoglycorrhachia, Abnormal erythrocyte morphology, Progressive microcephaly, Central apnea, Conf...	ORPHA:71277
Ciliary Dyskinesia, Primary, 12	Decreased nasal nitric oxide, Bronchiectasis, Short stature, Abnormal central microtubular pair m...	OMIM:612650
Aicardi-Goutieres Syndrome 4	Respiratory insufficiency, Splenomegaly, Ventriculomegaly, Leukodystrophy, Hydrocephalus, Pancyto...	OMIM:610333
Pontocerebellar Hypoplasia, Type 6	Apnea, Failure to thrive, Progressive microcephaly, Microcephaly, Poor head control, Increased CS...	OMIM:611523
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Drowsiness, Abnormal lateral ventricle morphology, Growth delay, Severe demyelination of the whit...	ORPHA:488635
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ophthalmoplegia, Leukodystrophy, Macrocephaly, Apnea, Increased CSF lactate, Lethargy	OMIM:618225
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Respiratory distress, Muscle weakness, Failure to thrive, Growth delay, Let...	OMIM:613561
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability	OMIM:617028
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Drowsiness, Small for gest...	ORPHA:79243
Congenital Disorder Of Glycosylation, Type Iid	Macrocephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Ciliary Dyskinesia, Primary, 14	Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein a...	OMIM:613807
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to t...	OMIM:226990
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren...	OMIM:615294
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Agitation	ORPHA:100973
Holoprosencephaly 5	Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ...	OMIM:609637
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Absent respiratory ciliary axoneme ...	OMIM:616481
Autosomal Recessive Spastic Paraplegia Type 11	Lower limb muscle weakness, Lateral ventricle dilatation, Hypothalamic atrophy, Emotional labilit...	ORPHA:2822
Pontocerebellar Hypoplasia, Type 1A	Respiratory insufficiency, Basal ganglia gliosis, Lateral ventricle dilatation, Demyelinating per...	OMIM:607596
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Fail...	ORPHA:33110
Central Precocious Puberty	Acne, Hydrocephalus, Obesity, Proportionate short stature, Increased circulating gonadotropin lev...	ORPHA:759
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me...	OMIM:614017
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615504
Fragile X Syndrome	Mandibular prognathia, Self-injurious behavior, Macrocephaly, Sinusitis, Otitis media, Anxiety, C...	ORPHA:908
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Lethargy, Intrauterine growth retardation	OMIM:617065
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy, Growth delay, Short stature	OMIM:618573
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Macrocephaly, Anxiety, Interhypothalamic Adhesion, Agenesis of corpus ca...	OMIM:618929
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Immotile cilia, Communicating hydrocephalus, Recurrent bronchitis, Chro...	OMIM:244400
Pallister-Hall-Like Syndrome	Short stature, Anterior hypopituitarism, Micrognathia, Hydrocephalus, Macrocephaly, Microcephaly,...	OMIM:241800
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Hydrocephalus, Hypoplasia of the maxilla, Muscle weakness, Microcephaly	OMIM:618302
1Q21.1 Microduplication Syndrome	Failure to thrive, Macrocephaly, Hydrocephalus	ORPHA:250994
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Hydrocephalus, Microcephaly	OMIM:619470
Beemer Lethal Malformation Syndrome	Thrombocytopenia, Hydrocephalus	OMIM:209970
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus, Microcephaly	OMIM:617244
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis	ORPHA:1008
Dystonia 30	Aggressive behavior, Hypothalamic hamartoma	OMIM:619291
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Basal ganglia gliosis, Ventriculomegaly, Irregular respiration, Respiratory distress, Gliosis, In...	OMIM:604377
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Delirium, Drowsiness, Coma, Respiratory distress, Emotional lability, Failure to thrive, Loss of ...	ORPHA:927
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Macrocephaly, Agenesis of corpus c...	OMIM:600348
Phenylketonuria	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety...	OMIM:261600
Epilepsy, Pyridoxine-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Lethargy	ORPHA:79283
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Aggressive behavior, Laryngomalacia, Ventriculomegaly, Short stature, Self-injurious behavior, De...	OMIM:619833
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia, Short stature, Bronchiectasis, Micrognathia...	OMIM:242860
N-Acetylglutamate Synthase Deficiency	Aggressive behavior, Coma, Respiratory distress, Failure to thrive, Confusion, Lethargy	OMIM:237310
Immunodeficiency By Defective Expression Of Mhc Class Ii	Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, T lymphocytopenia, Decreased circula...	ORPHA:572
Ciliary Dyskinesia, Primary, 38	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Absent ...	OMIM:618063
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:301008
Homocystinuria Without Methylmalonic Aciduria	Failure to thrive, Lethargy	ORPHA:622
Felty Syndrome	Anemia, Rhinitis, Weight loss, Arthritis, Synovitis, Recurrent pharyngitis, Pericarditis, Recurre...	ORPHA:47612
Ciliary Dyskinesia, Primary, 6	Absent/shortened outer dynein arms, Recurrent sinusitis, Abnormal ciliary motility, Abnormal resp...	OMIM:610852
Pyruvate Dehydrogenase Deficiency	Ventriculomegaly, Dyspnea, Growth delay, Microcephaly, Lethargy, Intrauterine growth retardation,...	ORPHA:765
Dihydrolipoamide Dehydrogenase Deficiency	Increased CSF leucine concentration, Increased CSF valine concentration, Increased CSF isoleucine...	OMIM:246900
Pgm3-Cdg	T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma...	ORPHA:443811
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Developmental And Epileptic Encephalopathy 92	Secondary microcephaly, Lethargy	OMIM:617829
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Ciliary dyski...	OMIM:614679
Developmental And Epileptic Encephalopathy 49	Dandy-Walker malformation, Hydrocephalus, Microcephaly, Ventriculomegaly	OMIM:617281
Aspergillosis	Osteomyelitis, Bronchiectasis, Asthma, Hepatitis, Abnormality on pulmonary function testing, Chro...	ORPHA:1163
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior	OMIM:248510
Congenital Hydrocephalus	Hydrocephalus, Macrocephaly, Ventriculomegaly, Colpocephaly	ORPHA:2185
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	OMIM:129850
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior	OMIM:239500
Congenital Toxoplasmosis	Anemia, Ventriculomegaly, Hydrocephalus, Microcephaly, Thrombocytopenia, Failure to thrive in inf...	ORPHA:858
Cach Syndrome	Lateral ventricle dilatation, Apathy, T2 hypointense thalamus, Pancreatitis, Hepatosplenomegaly, ...	ORPHA:135
Pettigrew Syndrome	Mandibular prognathia, Self-injurious behavior, Ventriculomegaly, Hydrocephalus, Dandy-Walker mal...	OMIM:304340
Ciliary Dyskinesia, Primary, 40	Decreased nasal nitric oxide, Reduced respiratory ciliary beating frequency, Azoospermia, Chronic...	OMIM:618300
Developmental And Epileptic Encephalopathy 43	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617113
Pseudo-Torch Syndrome 2	Respiratory insufficiency, Ventriculomegaly, Lateral ventricle dilatation, Pleural effusion, Micr...	OMIM:617397
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos...	OMIM:613953
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhin...	OMIM:618699
Hemidystonia-Hemiatrophy Syndrome	Abnormal paranasal sinus morphology, Rhizomelic leg shortening, Advanced pneumatization of crania...	ORPHA:306741
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Generalized muscle weakness, Drowsiness, Coma, Lethargy, Increased body weight	ORPHA:276608
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficienc...	OMIM:616037
Temple Syndrome	Decreased response to growth hormone stimulation test, Short stature, Small for gestational age, ...	ORPHA:254516
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly, Short stature, Small for...	OMIM:609757
Mitochondrial Complex I Deficiency, Nuclear Type 3	Respiratory insufficiency, Lethargy	OMIM:618224
Primary Ciliary Dyskinesia	Asplenia, Respiratory failure, Ventriculomegaly, Bronchiectasis, Productive cough, Polysplenia, H...	ORPHA:244
Frontal Encephalocele	Encephalocele, Spina bifida, Leukodystrophy, Macrocephaly, Hydrocephalus	ORPHA:1931
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Chronic sinusitis, Otitis media	OMIM:300455
Fried Syndrome	Aggressive behavior, Hydrocephalus	ORPHA:85335
Alexander Disease Type I	Cachexia, Hydrocephalus, Failure to thrive, Abnormal thalamic MRI signal intensity, Progressive m...	ORPHA:363717
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Failure to thrive, Irritability, Agenesis of corpus callosum	OMIM:250620
Hereditary Central Diabetes Insipidus	Lethargy, Irritability, Growth delay, Weight loss	ORPHA:30925
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Aggressive behavior, Lateral ventricle dilatation, Euphoria, Gliosis, Peripheral demyelination	OMIM:221770
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Proximal muscle weakness, Exertional dyspnea, Fatigable weakness, Fatigable weakness of neck musc...	ORPHA:42
Ciliary Dyskinesia With Defective Radial Spokes	Immotile cilia, Absent respiratory ciliary axoneme radial spokes, Abnormal respiratory system phy...	OMIM:242670
Martsolf Syndrome 2	Short stature, Decreased body weight, Microcephaly, Lateral ventricle dilatation	OMIM:619420
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Irritability, Delayed CNS myelination, Microcephaly, Lethargy	OMIM:617105
Ciliary Dyskinesia, Primary, 15	Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Chronic sinusitis, Re...	OMIM:613808
Holocarboxylase Synthetase Deficiency	Weight loss, Keratoconjunctivitis, Coma, Irritability, Eczema, Respiratory distress, Perioral ecz...	ORPHA:79242
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Respiratory distress, Sinusit...	OMIM:606763
Cleft Lip With Or Without Cleft Palate	Chronic sinusitis, Recurrent otitis media	ORPHA:1991
Cyclic Vomiting Syndrome	Growth delay, Muscle weakness, Lethargy, Microcephaly	OMIM:500007
Glycerol Kinase Deficiency	Short stature, Small for gestational age, Coma, Growth delay, Loss of consciousness, Lethargy	OMIM:307030
Riddle Syndrome	Decreased circulating total IgM, Weight loss, Short stature, Demyelinating peripheral neuropathy,...	ORPHA:420741
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, Personality disorder	ORPHA:2382
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Aggressive behavior, Ventriculomegaly, Ophthalmoplegia, Skin rash, Pancytopenia, Gliosis, Letharg...	OMIM:618321
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Aggressive behavior, Anxiety	OMIM:609425
Lethal Infantile Mitochondrial Myopathy	Neonatal respiratory distress, Lethargy, Progressive external ophthalmoplegia	ORPHA:254857
Mucus Inspissation Of Respiratory Tract	Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis	OMIM:253240
Leigh Syndrome With Cardiomyopathy	Anemia, Basal ganglia gliosis, Abnormality of thalamus morphology, Ventriculomegaly, Ophthalmople...	ORPHA:70474
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Bipolar affective disorder	OMIM:619927
Ciliary Dyskinesia, Primary, 10	Recurrent sinusitis, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dy...	OMIM:612518
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,...	OMIM:619827
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Confusion, Lethargy, Herpes simplex encephalitis	OMIM:617900
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, External ophthalmoplegia, Coma, Muscle weakness, Failure to thrive, Respiratory failure, ...	OMIM:615838
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Leukodystrophy, Respiratory distress, Tachypnea, ...	OMIM:614299
Gómez-López-Hernández Syndrome	Hydrocephalus, Short stature	ORPHA:1532
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Drowsiness, Large for gestational age, Muscle weakness, Hypoglycemic coma, Loss of consciousness,...	ORPHA:276580
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Vitamin B12-Responsive Methylmalonic Acidemia	Respiratory insufficiency, Anemia, Coma, Failure to thrive, Lethargy	ORPHA:28
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Carnitine Deficiency, Systemic Primary	Proximal muscle weakness, Coma, Respiratory distress, Muscle weakness, Failure to thrive, Excessi...	OMIM:212140
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Irritability, Decreased CSF homovanillic acid concentration, Bradykinesia	ORPHA:101150
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Neutropenia, Coma, Pancreatitis, Respiratory distress, Failure to thrive, Thrombocytopeni...	ORPHA:79312
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Micrognathia, Macrocephaly, Hydrocephalus, Short stature	ORPHA:1516
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ...	ORPHA:3077
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Eosinophilia, Pneumonia, Splenomegaly, Decreased circulating t...	OMIM:102700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Ophthalmoplegia	OMIM:618683
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Secondary microcephaly, Delayed CNS myelination, Microcephaly	OMIM:615599
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Microcephaly	OMIM:304100
Microphthalmia-Brain Atrophy Syndrome	Vegetative state, Diffuse demyelination of the cerebral white matter, Microcephaly, Lateral ventr...	ORPHA:77299
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Multiple Carboxylase Deficiency	Coma, Skin rash, Respiratory distress, Spinal cord posterior columns myelin loss, Lethargy, Limb ...	ORPHA:148
Bacterial Toxic-Shock Syndrome	Septic arthritis, Fasciitis, Myositis, Glomerulonephritis, Recurrent skin infections, Thrombocyto...	ORPHA:36234
Insulinoma	Generalized muscle weakness, Fluctuations in consciousness, Coma, Pituitary prolactin cell adenom...	ORPHA:97279
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety	OMIM:619467
Central Diabetes Insipidus	Weight loss, Failure to thrive, Excessive daytime somnolence, Anxiety, Lethargy	ORPHA:178029
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Abnormality of B cel...	OMIM:613179
Pontocerebellar Hypoplasia, Type 12	Micrognathia, Lateral ventricle dilatation, Primary microcephaly	OMIM:618266
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior	ORPHA:101039
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Neutropenia, Coma, Respiratory distress, Growth delay, Thrombocytopenia, Lethargy, Pancre...	ORPHA:289916
Albers-Schönberg Osteopetrosis	Anemia, Osteomyelitis, Short stature, Arthritis, Macrocephaly, Hydrocephalus, Mandibular osteomye...	ORPHA:53
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Delayed eruption of teeth, Impaired neutrophil chemotaxis, Eczema, Bone m...	ORPHA:811
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Delayed myelination, Lateral ventricle dilatation, Primary microcephaly, Micrognathia, Failure to...	ORPHA:284417
Cyclic Neutropenia	Enterocolitis, Perianal abscess, Periodontitis, Peritonitis, Decreased eosinophil count, Lymphope...	ORPHA:2686
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Respiratory insufficiency, Delayed CNS myelination, Microcephaly, Lateral ventricle dilatation	OMIM:617668
Intellectual Developmental Disorder, X-Linked 30	Aggressive behavior, Short stature, Hydrocephalus, Microcephaly, Anxiety	OMIM:300558
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Pulmonary arterial hypertension, Neonatal death, Muscle weakness, Fail...	OMIM:605711
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Abnormal respiratory m...	ORPHA:922
D-2-Hydroxyglutaric Aciduria 1	Lateral ventricle dilatation, Micrognathia, Macrocephaly, Subependymal cysts, Muscle weakness, Ap...	OMIM:600721
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Propionic Acidemia	Anemia, Neutropenia, Short stature, Coma, Eczema, Pancytopenia, Apnea, Failure to thrive, Thrombo...	OMIM:606054
Temple Syndrome	Short stature, Small for gestational age, Micrognathia, Relative macrocephaly, Hydrocephalus, Rec...	OMIM:616222
Staphylococcal Necrotizing Pneumonia	Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn...	ORPHA:36238
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Short stature, Bronchiectasis, Decreased circulating...	OMIM:208900
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Delayed CNS myelination, Microcephaly, Ophthalmoplegia, Colpocephaly	OMIM:618731
Susac Syndrome	Abnormal emotion/affect behavior, Apathy, Muscle weakness, Confusion, Lethargy	ORPHA:838
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Decreased body weigh...	ORPHA:258
Hyperinsulinism Due To Hnf1A Deficiency	Drowsiness, Small for gestational age, Large for gestational age, Hypoglycemic coma, Loss of cons...	ORPHA:324575
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety	OMIM:301013
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Macrocephaly at birth	ORPHA:324416
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased...	ORPHA:183675
Krabbe Disease	Hydrocephalus, CNS demyelination, Autoimmune thrombocytopenia, Failure to thrive, Increased CSF p...	OMIM:245200
Tubulinopathy-Associated Dysgyria	Macrocephaly, Abnormality of thalamus morphology, Microcephaly, Ventriculomegaly	ORPHA:467166
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Secondary microcephaly, Delayed myelination, Hydrocephalus	ORPHA:397951
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Lower limb muscle weakness, Hydrocephalus, Apnea, Failure to thrive, Microcepha...	ORPHA:395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Respiratory insufficiency, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Poor hea...	OMIM:613153
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia, Small for gestational age, Severe short stature, Focal T2 hyperintense thal...	OMIM:619057
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Short stature, Hydrocephalus, Macrocephaly, Hypoplasia of the maxilla, Malar fl...	OMIM:109120
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Triceps weakness, Hydrocephalus, Foot dorsiflexor wea...	ORPHA:99947
Scedosporiosis	Endocarditis, Septic arthritis, Osteomyelitis, Pleural empyema, Abnormal respiratory system physi...	ORPHA:449280
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Pancytopen...	OMIM:275350
Craniotelencephalic Dysplasia	Arrhinencephaly, Hydrocephalus, Microcephaly, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Mucopolysaccharidosis Type 1	Short stature, Macrocephaly, Hydrocephalus, Apnea, Chronic otitis media, Sinusitis, Cough, Spleno...	ORPHA:579
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Decreased response to growth hormone ...	OMIM:307200
Ogden Syndrome	Ventriculomegaly, Microretrognathia, Excessive daytime somnolence, Lethargy, Postnatal growth ret...	ORPHA:276432
Diencephalic Syndrome	Cachexia, Decreased body weight, Hydrocephalus	ORPHA:1672
Meningococcal Meningitis	Hypoglycorrhachia, CSF pleocytosis, Drowsiness, Skin rash, Irritability, Increased CSF protein co...	ORPHA:33475
Hydrolethalus Syndrome 2	Ventriculomegaly, Micrognathia, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Abnormal myelination, Hydrocephalus	ORPHA:352682
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Neutropenia, Micrognathia, Failure to thrive, Growth delay, Thro...	OMIM:614857
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination, Agenesis of corpus callosum	ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination, Agenesis of corpus callosum	ORPHA:401830
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Short...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Short...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Short...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Short...	ORPHA:220386
Landau-Kleffner Syndrome	Hyperactivity, Aggressive behavior, Emotional lability, Impulsivity, Attention deficit hyperactiv...	ORPHA:98818
Biemond Syndrome Type 2	Delayed puberty, Obesity, Hydrocephalus, Short stature	ORPHA:141333
Nijmegen Breakage Syndrome	T lymphocytopenia, Short stature, B lymphocytopenia, Bronchiectasis, Micrognathia, Malar prominen...	OMIM:251260
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Leukopenia, Neutropenia, Coma, Respiratory distress, Failure to thr...	OMIM:251000
Hyperinsulinism Due To Ucp2 Deficiency	Drowsiness, Large for gestational age, Hypoglycemic coma, Loss of consciousness, Lethargy	ORPHA:276556
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Obesity, Self-mutilation, Hydrocephalus	OMIM:616521
Hemochromatosis, Type 2A	Arthritis, Lethargy, Azoospermia, Splenomegaly	OMIM:602390
Greig Cephalopolysyndactyly Syndrome	Macrocephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Drowsiness, Large for gestational age, Hypoglycemic coma, Loss of consciousness, Lethargy	ORPHA:276575
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Enamel hypoplasia, Splenomegaly, Ventriculomegaly, Hydrocephalus, Pancytopenia, Fai...	OMIM:614576
Ciliary Dyskinesia, Primary, 35	Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit...	OMIM:617092
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior	ORPHA:382
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Progressive macrocephaly, Hydrocephalus, Ventriculomegaly, Leukemia	OMIM:602501
Alg2-Cdg	Cerebral hypomyelination, Microcephaly, Lateral ventricle dilatation	ORPHA:79326
Cleidocranial Dysplasia	Mandibular prognathia, Short stature, Delayed eruption of teeth, Micrognathia, Macrocephaly, Supe...	ORPHA:1452
Hemiparkinsonism-Hemiatrophy Syndrome	Neonatal asphyxia, Bradykinesia, Lateral ventricle dilatation	ORPHA:306669
Sim1-Related Prader-Willi-Like Syndrome	Ventriculomegaly, Hypothalamic luteinizing hormone-releasing hormone deficiency, Central sleep ap...	ORPHA:398079
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Laryngomalacia, Lateral ventricle dilatation, Primary microcephaly, Small for gestational age, Sh...	OMIM:619847
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Micrognathia, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618577
Tay-Sachs Disease	Distal upper limb muscle weakness, Aspiration pneumonia, Ventriculomegaly, Lower limb muscle weak...	ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ...	OMIM:617591
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Micrognathia, ...	ORPHA:3078
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Endocarditis, Tubulointerstitial nephritis, Weight loss, Asthma, Skin ...	ORPHA:183
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Delirium, Neutropenia,...	ORPHA:79282
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Irritability, Increased CSF phenylalanine concentration	OMIM:233910
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Proximal muscle weakness, Ventriculomegaly, Hydrocephalus, Decreased th...	ORPHA:370959
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Generalized muscle weakness, External ophthalmoplegia, Macrocephaly, Hydroce...	OMIM:310400
Hydranencephaly	Thalamic edema, Ventriculomegaly, Primary microcephaly, Atrophic pituitary gland, Dysgenesis of t...	ORPHA:2177
Igg4-Related Pachymeningitis	Lymphadenitis, Increased circulating IgG4 level, Lower limb muscle weakness, Abnormal cerebrospin...	ORPHA:449427
Hyperlysinuria With Hyperammonemia	Coma, Lethargy, Growth delay	OMIM:238750
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:271980
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Epistaxis, Mus...	ORPHA:1959
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Microcephaly, Apneic episodes in infancy	OMIM:610006
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Muscle weakness, Lethargy, Short stature	OMIM:618120
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Lethargy, Megaloblastic anemia, Normocytic anemia	OMIM:236270
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Respiratory insufficiency due to muscle weakness	OMIM:616816
Intellectual Developmental Disorder, Autosomal Dominant 36	Ventriculomegaly, Hydrocephalus, Delayed CNS myelination, Microcephaly, Agenesis of corpus callosum	OMIM:616362
Fusariosis	Maculopapular exanthema, Brain abscess, Osteomyelitis, Bronchiectasis, Productive cough, Granulom...	ORPHA:228119
Idiopathic Intracranial Hypertension	Lethargy, Obesity, Abnormal emotion/affect behavior	ORPHA:238624
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Short stature, Lateral ventricle dilatation, Total ophthalmoplegia, Grow...	ORPHA:208447
Familial Acute Necrotizing Encephalopathy	Generalized muscle weakness, Abnormality of thalamus morphology, Coma, Abnormal pattern of respir...	ORPHA:88619
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Micrognathia, Hydrocephalus, Macrocephaly, Microcephaly	OMIM:614219
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
X-Linked Intellectual Disability, Wilson Type	Delayed myelination, Mandibular prognathia, Lateral ventricle dilatation, Growth delay, Microcephaly	ORPHA:85290
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Azoospermia, Hydrocephalus, Short stature	ORPHA:2183
Magel2-Related Prader-Willi-Like Syndrome	Ventriculomegaly, Short stature, Hypothalamic luteinizing hormone-releasing hormone deficiency, C...	ORPHA:398069
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Coma, Failure to thrive, Acute hepatitis, Confusion, Lethargy	OMIM:238970
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Polycythemia, Microcephaly, Astrocytosis, Splenomegaly, Bradykinesia	ORPHA:309854
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Isolated Complex I Deficiency	Respiratory insufficiency, Leukodystrophy, Muscle weakness, Failure to thrive, Microcephaly, Poor...	ORPHA:2609
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Hydranencephaly, Micr...	OMIM:225790
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Lethargy, Microcephaly	ORPHA:2394
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Anxiety	ORPHA:261102
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of thalamus morphology, Normal pressure hydrocephalus, Lateral ventricle dilatation, ...	ORPHA:300570
Trichinellosis	Conjunctivitis, Ophthalmoplegia, Skin rash, Apathy, Abnormal cerebrospinal fluid morphology, Musc...	ORPHA:863
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Macrocephaly, Ventriculomegaly, Agenesis of corpus callosum	OMIM:175700
Hemochromatosis Type 2	Muscle weakness, Lethargy	ORPHA:79230
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Micrognathia, Hydranencephaly, Holoprosencephaly, Microcephaly, Abnormality of the diencephalon, ...	ORPHA:2570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microcephaly, Facial palsy	OMIM:613155
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Lethargy, Megaloblastic anemia, Short stature	ORPHA:49827
Leukoencephalopathy, Progressive, With Ovarian Failure	Muscle weakness, Lateral ventricle dilatation	OMIM:615889
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Lethargy, Pancreatitis	OMIM:619386
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Delirium, Neutropenia, Hydrocephalus, Failure to thrive, Thrombocytopenia, ...	OMIM:277400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Respiratory insufficiency, Leukopenia, Anemia, Coma, Macrocytic anemia, Thrombocytopenia, Letharg...	ORPHA:27
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Macrocephaly, Hydrocephalus, Microretrognathia, Dandy-Walker malformation	OMIM:220220
1Q44 Microdeletion Syndrome	Ventriculomegaly, Short stature, Micrognathia, Hydrocephalus, Biparietal narrowing, Microcephaly,...	ORPHA:238769
Citrullinemia Type I	Coma, Failure to thrive, Loss of consciousness, Lethargy, Tachypnea	ORPHA:247525
Glutaric Acidemia I	Delayed myelination, Lateral ventricle dilatation, Macrocephaly, Hydrocephalus, Failure to thrive...	OMIM:231670
Nasu-Hakola Disease	Hydrocephalus, Irritability, Ventriculomegaly, Acute leukemia	ORPHA:2770
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Delayed CNS myelination, Partial agenesis of the corpus callosum, Microcephaly, Lateral ventricle...	OMIM:619517
Citrullinemia Type Ii	Aggressive behavior, Delirium, Fluctuations in consciousness, Drowsiness, Coma, Irritability, Let...	ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity	OMIM:301076
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Ventriculomegaly, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes ...	ORPHA:163961
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Hydrocephalus, Macrocephaly, Microcephaly, Disproportionate short-trun...	OMIM:613330
Thanatophoric Dysplasia Type 2	Respiratory insufficiency, Encephalocele, Ventriculomegaly, Short stature, Hydrocephalus, Macroce...	ORPHA:93274
Lissencephaly 5	Occipital encephalocele, Macrocephaly, Hydrocephalus	OMIM:615191
Congenital Hypothyroidism	Anterior hypopituitarism, Sinusitis, Short stature, Anxiety	ORPHA:442
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Short stature, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Emotional la...	ORPHA:1136
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Aggressive behavior, Ventriculomegaly, Short stature, Asthma, Relative m...	ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Tracheobronchomalacia, Lateral ventricle dilatation, Macrocephaly, Ecze...	OMIM:617751
Fanconi Anemia, Complementation Group I	Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Bone...	OMIM:609053
Rheumatic Fever	Respiratory insufficiency, Endocarditis, Arthritis, Recurrent pharyngitis, Pericarditis, Epistaxi...	ORPHA:3099
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Sho...	OMIM:619575
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Lateral ventric...	OMIM:256850
Mucopolysaccharidosis Type 6	Failure to thrive, Chronic otitis media, Recurrent upper respiratory tract infections, Sinusitis,...	ORPHA:583
Infantile Sialic Acid Storage Disease	Failure to thrive, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly	OMIM:269920
Cockayne Syndrome Type 3	Enamel hypoplasia, Demyelinating peripheral neuropathy, Abnormal myelination, Mild postnatal grow...	ORPHA:90324
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Respiratory insufficiency, Respiratory failure, Ventriculomegaly, Apnea, Microcephaly, Neonatal r...	OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Lethargy, Failure to thrive in infancy	OMIM:619064
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Chronic otitis media	OMIM:604571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Progressive microcephaly, Microcephaly, Poor head control, Agenesis of corpus call...	OMIM:615249
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Short stature, Micrognathia, Agenesis of corpus callosum, Relative ...	ORPHA:459061
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Short stature, Hydrocephalus, Malar flattening, Agenesis of corpus callosum	OMIM:218350
Good Syndrome	Anemia, Bronchiectasis, Decreased circulating antibody level, Fatigable weakness, Sinusitis, Dysp...	ORPHA:169105
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Macrocephaly, Hydrocephalus	ORPHA:83473
Thymic Aplasia	T lymphocytopenia, Chronic oral candidiasis, Coombs-positive hemolytic anemia, Thyroiditis, Atypi...	ORPHA:83471
Intellectual Developmental Disorder, Autosomal Dominant 56	Delayed myelination, Lateral ventricle dilatation, Secondary microcephaly, Delayed CNS myelinatio...	OMIM:617854
Isovaleric Acidemia	Leukopenia, Coma, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Lethargy	OMIM:243500
Thanatophoric Dysplasia	Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Macrocephaly, Disproportionate short-...	ORPHA:2655
Granulomatosis With Polyangiitis	Respiratory insufficiency, Conjunctivitis, Weight loss, Granulomatosis, Uveitis, Rhinorrhea, Sinu...	OMIM:608710
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Vegetative state, Failure to thrive, Gliosis, Increased CSF protein concentratio...	OMIM:203700
Microsporidiosis	Brain abscess, Prostatitis, Cachexia, Myositis, Decreased proportion of CD4-positive helper T cel...	ORPHA:2552
Yellow Nail Syndrome	Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Dyspnea, Sinusitis, Cough	ORPHA:662
Crigler-Najjar Syndrome	Infectious encephalitis, Lethargy, Ophthalmoparesis	ORPHA:205
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Inappropriate laughter, Polyphagia, Happy demeanor	ORPHA:411515
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology, Microcephaly	ORPHA:398189
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Mic...	OMIM:618291
Osteopetrosis, Autosomal Recessive 5	Anemia, Respiratory failure, Ventriculomegaly, Short stature, Micrognathia, Hydrocephalus, Extram...	OMIM:259720
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Respiratory failure, Coma, Leukodystrophy, Apnea, Failure to thrive, M...	OMIM:252010
Typhoid	Coma, Skin rash, Epistaxis, Cough, Infectious encephalitis, Lethargy, Splenomegaly	ORPHA:99745
Osteopetrosis, Autosomal Recessive 1	Anemia, Osteomyelitis, Ophthalmoparesis, Calvarial osteosclerosis, Macrocephaly, Hydrocephalus, P...	OMIM:259700
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Subependymal cysts, Apnea, CNS hypomyelination, Neonatal respirator...	OMIM:610015
Classic Galactosemia	Delayed puberty, Lethargy, Abnormal erythrocyte enzyme level, Anxiety	ORPHA:79239
Medulloblastoma	Hydrocephalus, Irritability, Total ophthalmoplegia, Progressive macrocephaly, Lethargy	ORPHA:616
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Failure to thrive, Irritability, Short stature	ORPHA:2089
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Macrocephaly, Hydrocephalus, Malar flattening, Obesity, Abnormal dental en...	ORPHA:2180
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Optic Pathway Glioma	Fatigable weakness, Hydrocephalus, Growth delay, Ophthalmoplegia	ORPHA:2086
Whim Syndrome	Lymphadenitis, Bronchiectasis, Abnormality of neutrophil morphology, Decreased circulating antibo...	ORPHA:51636
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased body weight, Short stature, Hydrocephalus, CNS demyelination, Prominence of the premaxi...	OMIM:614886
Benign Samaritan Congenital Myopathy	Lethargy, Abnormal respiratory system physiology	ORPHA:324581
Idiopathic Congenital Hypothyroidism	Lethargy, Elevated circulating thyroid-stimulating hormone concentration	ORPHA:95717
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Coma, Irritability, Muscle weakness, Microcephaly, Lethargy, Sudden ep...	ORPHA:159
Acute Disseminated Encephalomyelitis	Aggressive behavior, Herpes simplex encephalitis, Myelitis, Coma, CNS demyelination, Diaphragmati...	ORPHA:83597
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Generalized muscle weakness, Lower limb muscle weakness, Coma, Progres...	ORPHA:746
Zygomycosis	Brain abscess, Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Loss ...	ORPHA:73263
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum	OMIM:617542
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation	ORPHA:272
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Emotional lability, Failure to thrive, Impaired T cell function, Lethargy, Irritab...	OMIM:201100
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Mandibular prognathia, Short stature, Micrognathia...	ORPHA:1908
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Delayed eruption of primary teeth, Chronic oral candidiasis, Microgn...	OMIM:609029
Wiskott-Aldrich Syndrome	Hypoplasia of the thymus, Eczema, Thrombocytopenia, Arthritis, Chronic pulmonary obstruction, Neu...	ORPHA:906
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Macrocephaly, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short stature, Primary microcephaly, Small for gestational age, Abnormal myelination, Secondary m...	ORPHA:289266
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus	ORPHA:945
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Laryngomalacia, Micrognathia, Hydrocephalus, Malar flattening, Obesity	ORPHA:171839
Pelizaeus-Merzbacher Disease, Connatal Form	Laryngeal stridor, Respiratory failure, Short stature, Cerebral hypomyelination, Abnormal myelina...	ORPHA:280210
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Asthma, Pleural effusion, Failure to thrive, Microcephaly, Sleep ap...	OMIM:618606
Chiari Malformation Type Ii	Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Limb muscle weakness, Inspira...	OMIM:207950
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macrocephaly, Hydrocephalus	OMIM:300886
Monosomy 18Q	Astrocytoma, Mandibular prognathia, Short stature, Abnormal myelination, Biparietal narrowing, Hy...	ORPHA:1600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Muscle weakness, Microcephaly, Respiratory arrest, Lethargy, Tachypnea	OMIM:201475
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Immunodeficiency, Common Variable, 1	Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i...	OMIM:607594
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Self-mutilation	OMIM:615516
Galactosemia	Failure to thrive, Lethargy, Abnormal erythrocyte enzyme level	ORPHA:352
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Anemia, Weight loss, Coma, Apathy, Apnea, Hypoglycemic coma, Acute pancreatitis, Micr...	ORPHA:20
Progressive Non-Fluent Aphasia	Astrocytosis, Anxiety	ORPHA:100070
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Coma, Failure to thrive, Lethargy, Irritability	OMIM:237300
Ciliary Dyskinesia, Primary, 25	Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Recurrent sinusitis, Chronic pulmo...	OMIM:615482
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent bronchitis, Recur...	OMIM:300853
Scrub Typhus	Myocarditis, Skin rash, Restrictive ventilatory defect, Dyspnea, Cough, Reduced consciousness/con...	ORPHA:83317
Tenorio Syndrome	Recurrent aphthous stomatitis, Mandibular prognathia, Ventriculomegaly, Hydrocephalus, Macrocepha...	OMIM:616260
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Short stature, Bronchiectasis, Immotile cilia, Abnormal central mic...	OMIM:612649
Griscelli Syndrome	Leukopenia, Encephalocele, Short stature, Decreased circulating antibody level, Hepatitis, Hydroc...	ORPHA:381
Polymicrogyria Due To Tubb2B Mutation	Agenesis of corpus callosum, Microcephaly, Lateral ventricle dilatation	ORPHA:300573
Peroxisome Biogenesis Disorder 5A (Zellweger)	Splenomegaly, Small for gestational age, Micrognathia, Hepatosplenomegaly, Vegetative state, Fail...	OMIM:614866
Microscopic Polyangiitis	Skin rash, Arthritis, Uveitis, Pericarditis, Epistaxis, Sinusitis, Episcleritis, Peritonitis, Inc...	ORPHA:727
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Microcephaly, Lateral ventricle dilatation	OMIM:618890
Spondyloenchondrodysplasia	Dental malocclusion, Decreased response to growth hormone stimulation test, Ventriculomegaly, Sho...	ORPHA:1855
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy	OMIM:619111
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Increased CSF lactate, Delayed myelination, CNS hypomyelination	OMIM:614922
Symptomatic Form Of Hemochromatosis Type 1	Weight loss, Arthritis, Apathy, Muscle weakness, Lethargy, Splenomegaly	ORPHA:465508
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive, Microcephaly, Malar flattening, Intrauterine growth retardation...	OMIM:612940
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Bresek Syndrome	Hydrocephalus, Growth delay, Microcephaly, Neonatal death, Intrauterine growth retardation	ORPHA:85284
Hypercalcemia, Infantile, 1	Failure to thrive, Lethargy, Weight loss	OMIM:143880
Desmosterolosis	Retrognathia, Splenomegaly, Ventriculomegaly, Micrognathia, Macrocephaly, Hydrocephalus, Failure ...	ORPHA:35107
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior	OMIM:612716
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Megaloblastic anemia, Neutropenia, Short stature, Small for gestational age, Skin rash, S...	OMIM:277380
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Edinburgh Malformation Syndrome	Respiratory insufficiency, Failure to thrive, Micrognathia, Hydrocephalus	ORPHA:1895
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop...	OMIM:619281
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru...	ORPHA:2968
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agen...	OMIM:618736
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Riboflavin Deficiency	Lethargy	OMIM:615026
Lacrimal Duct Defect	Conjunctivitis, Sinusitis	OMIM:149700
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Hydrocephalus, Dandy-Walker...	ORPHA:96170
Immunodeficiency 61	Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis...	OMIM:300310
Global Developmental Delay With Or Without Impaired Intellectual Development	Short stature, Lateral ventricle dilatation	OMIM:618330
Immunodeficiency 15A	Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti...	OMIM:618204
Carnitine-Acylcarnitine Translocase Deficiency	Coma, Irritability, Cardiorespiratory arrest, Muscle weakness, Lethargy	OMIM:212138
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Microcephaly, Lateral ventricle dilatation	OMIM:615716
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Hypoglycorrhachia, Delayed myelination, Spontaneous hemolytic crises, Short statu...	ORPHA:168577
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hyposegmentation of n...	OMIM:620075
Encephalitis Lethargica	Increased circulating antibody level, Coma, Upper limb muscle weakness, Pharyngitis, Increased CS...	ORPHA:83600
Amelocerebrohypohidrotic Syndrome	Short stature, Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnorma...	ORPHA:1946
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Short stature, Hydrocephalus, Obesity, Splenomegaly	OMIM:615630
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short stature, Leukemia, Small for gestational age, Micrognathia, Hydrocephalus...	OMIM:257300
Osteopetrosis, Autosomal Recessive 2	Anemia, Mandibular prognathia, Osteomyelitis, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Ma...	OMIM:259710
Chronic Granulomatous Disease	Liver abscess, Inflammatory abnormality of the eye, Eczema, Chronic pulmonary obstruction, Abnorm...	ORPHA:379
Japanese Encephalitis	Distal upper limb muscle weakness, Abnormality of thalamus morphology, Increased CSF protein conc...	ORPHA:79139
Graves Disease, Susceptibility To, 1	Hyperactivity, Irritability, Polyphagia	OMIM:275000
Intellectual Developmental Disorder, Autosomal Dominant 35	Hydrocephalus, Macrocephaly, Ventriculomegaly, Intrauterine growth retardation	OMIM:616355
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hydrocephalus, Short stature	ORPHA:2701
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Episodic tachypnea, Small for gestational age, Inflammatory abnormality of the skin, Macrocephaly...	ORPHA:26793
Desmosterolosis	Ventriculomegaly, Rhizomelia, Micrognathia, Macrocephaly, Relative macrocephaly, Hydrocephalus, F...	OMIM:602398
Supranuclear Palsy, Progressive, 1	Apathy, Gliosis, Astrocytosis, Irritability, Bradykinesia	OMIM:601104
Developmental Delay, Language Impairment, And Ocular Abnormalities	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:620141
Late-Onset Isolated Acth Deficiency	Weight loss, Hepatitis, Normocytic anemia, Pituitary adenoma, Muscle weakness, Failure to thrive,...	ORPHA:199299
Functioning Gonadotropic Adenoma	Oculomotor nerve palsy, Decreased response to growth hormone stimulation test, Anterior hypopitui...	ORPHA:91348
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Delayed myelination, Lateral ventricle dilatation, Aspiration, Secondary microcephaly, Irritabili...	ORPHA:2148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Ventriculomegaly, Leukodystrophy, Hydrocephalus, Macrocephaly, Poor head con...	OMIM:616538
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Bradykinesia, Lateral ventricle dilatation	ORPHA:363654
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Generalized muscle weakness, Small for gestational age, Failure to thr...	OMIM:609015
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Hydrocephalus, Failure to thrive, Secondary microcephaly, Intrauterine growth retar...	OMIM:612938
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating total IgM, Lateral ventricle dilatation, Increased head circumferen...	OMIM:612301
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Absent inner dynein arms, Recurrent bronchitis, Recurrent sinusit...	OMIM:613193
Neonatal Lupus Erythematosus	Malar rash, Anemia, Maculopapular exanthema, Hemolytic anemia, Skin rash, Macrocephaly, Hydroceph...	ORPHA:398124
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Retrognathia, Microcephaly, Decreased thalamic volume	OMIM:619072
Thyroid Dyshormonogenesis 1	Lethargy, Growth delay	OMIM:274400
Ebola Hemorrhagic Fever	Leukopenia, Maculopapular exanthema, Increased circulating antibody level, Hepatitis, Lymphopenia...	ORPHA:319218
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Respiratory insufficiency, Inflammatory abnormality of the eye, Hydrocephalus, Hypoplasia of the ...	ORPHA:93262
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	External ophthalmoplegia, Coma, Irritability, Confusion, Lethargy, Facial palsy	OMIM:607483
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Abnormality of thalamus morphology, Short stature, Dysplastic co...	ORPHA:557003
Ciliary Dyskinesia, Primary, 23	Productive cough, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, R...	OMIM:615451
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Elevated hemoglobin A1c, Microcephaly, Lateral ventricle dilatation	OMIM:619278
Vitamin K Antagonist Embryofetopathy	Respiratory insufficiency, Hydrocephalus, Myelomeningocele, Intrauterine growth retardation	ORPHA:1914
Histiocytoid Cardiomyopathy	Drowsiness, Laryngeal web, Hydrocephalus, Failure to thrive, Cough, Loss of consciousness, Lethar...	ORPHA:137675
Slc35A2-Cdg	Delayed myelination, Elevated circulating thyroid-stimulating hormone concentration, Lateral vent...	ORPHA:356961
Leigh Syndrome	Anemia, Ophthalmoplegia, Leukodystrophy, Eczema, Muscle weakness, Failure to thrive, Distal muscl...	ORPHA:506
Aicardi-Goutieres Syndrome 9	Anemia, Hemolytic anemia, Weight loss, Lateral ventricle dilatation, Chilblains, Hepatosplenomega...	OMIM:619487
B4Galt1-Cdg	Inflammatory abnormality of the skin, Small for gestational age, Hydrocephalus, Splenomegaly, Dan...	ORPHA:79332
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Macrocephaly, Hydrocephalus, Intrauterine growth retardation	OMIM:300863
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Neutropenia, Skin rash, Stomatitis, Failure to thrive, Growth delay, Lethar...	ORPHA:79284
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Decrease...	OMIM:614700
Hemangioblastoma	Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness	ORPHA:252054
Mitochondrial Complex I Deficiency, Nuclear Type 9	Breathing dysregulation, Neonatal death, Lethargy, Hypoventilation	OMIM:618232
Ciliary Dyskinesia, Primary, 26	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615500
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Immunodeficiency, Common Variable, 2	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:240500
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Craniosynostosis 6	Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agen...	OMIM:616602
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:2182
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ...	OMIM:613101
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormality of the sphenoid sinus, Short stature, Granuloma, Micrognathia, Macrocephaly, Hydrocep...	ORPHA:363700
Malan Overgrowth Syndrome	Macrocephaly, Ventriculomegaly, Lateral ventricle dilatation, Anxiety	ORPHA:420179
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Aggressive behavior, Ventriculomegaly, Lateral ventricle dilatation...	ORPHA:488627
Autosomal Dominant Progressive External Ophthalmoplegia	Respiratory insufficiency, External ophthalmoplegia, Ophthalmoparesis, Ophthalmoplegia, Exertiona...	ORPHA:254892
Immunodeficiency, Common Variable, 3	Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced...	OMIM:613493
Ciliary Dyskinesia, Primary, 46	Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced forced vital capacity, Recur...	OMIM:619436
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Demyelinating peripheral neuropathy, Skin rash, Hydrocephalus, Cachexia, Microceph...	ORPHA:220295
Hypohidrotic Ectodermal Dysplasia	Inflammatory abnormality of the eye, Keratoconjunctivitis sicca, Eczema, Hypoplasia of the maxill...	ORPHA:238468
Walker-Warburg Syndrome	Ventriculomegaly, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Muscle weakness, Microc...	ORPHA:899
Icf Syndrome	Anemia, Short stature, Decreased circulating antibody level, Micrognathia, Macrocephaly, Communic...	ORPHA:2268
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macrocephaly, Ventriculomegaly, Communicating hydrocephalus, Colpocephaly	OMIM:615219
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Respiratory insufficiency, Decreased response to growth hormone stimulation test, Ventriculomegal...	OMIM:617260
Peho Syndrome	Ventriculomegaly, Drowsiness, Hydrocephalus, Biparietal narrowing, Microcephaly, Malar flattening	ORPHA:2836
Necrotizing Enterocolitis	Neutropenia, Small for gestational age, Peritonitis, Apnea, Leukocytosis, Thrombocytopenia, Lethargy	ORPHA:391673
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr...	OMIM:615559
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Delayed myelination, Aggressive behavior, Ventriculomegaly, Lateral ven...	ORPHA:572798
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615505
Hyperinsulinism Due To Hnf4A Deficiency	Drowsiness, Coma, Large for gestational age, Lethargy, Increased body weight	ORPHA:263455
Ciliary Dyskinesia, Primary, 18	Rhinitis, Decreased nasal nitric oxide, Respiratory insufficiency due to defective ciliary cleara...	OMIM:614874
Mucopolysaccharidosis, Type Ii	Tracheobronchomalacia, Short stature, Delayed eruption of teeth, Asthma, Macrocephaly, Hydrocepha...	OMIM:309900
Ciliary Dyskinesia, Primary, 24	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu...	OMIM:615481
Congenital Disorder Of Deglycosylation 2	Ventriculomegaly, Micrognathia, Macrocephaly, Partial agenesis of the corpus callosum, Hypothalam...	OMIM:619775
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Oculomotor nerve palsy, Increased circulating prolactin concentration, ...	ORPHA:91350
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, Intrauterine ...	OMIM:220210
Metatropic Dysplasia	Severe short stature, Hydrocephalus	ORPHA:2635
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Short stature, Macrocephaly, Hydrocephalus, Microretrognathia, Postnat...	OMIM:616294
Whipple Disease	Respiratory insufficiency, Anemia, Arthritis, Cachexia, Hydrocephalus, Uveitis, Pericarditis, Mus...	ORPHA:3452
Renal Hypoplasia, Bilateral	Anemia, Short stature, Small for gestational age, Failure to thrive, Growth delay, Neonatal respi...	ORPHA:97362
Fructose-1,6-Bisphosphatase Deficiency	Coma, Irritability, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Dihydropyrimidinase Deficiency	Excessive daytime somnolence, Lethargy, Growth delay	OMIM:222748
Granulomatosis With Polyangiitis	Respiratory insufficiency, Prostatitis, Weight loss, Skin rash, Inflammatory abnormality of the e...	ORPHA:900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Brain abscess, Rhizomelia, Macrocephaly, Hydrocephalus, Respirat...	OMIM:616482
Intellectual Developmental Disorder, Autosomal Dominant 65	Aggressive behavior, Micrognathia, Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Methylmalonic Aciduria, Cblb Type	Anemia, Neutropenia, Coma, Respiratory distress, Pancytopenia, Failure to thrive, Thrombocytopeni...	OMIM:251110
Alexander Disease	Respiratory insufficiency, Aqueductal stenosis, Self-injurious behavior, Macrocephaly, Hydrocepha...	ORPHA:58
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Failure to thrive, Hydrocephalus, Macrocephaly, Ventriculomegaly	ORPHA:60040
Thanatophoric Dysplasia, Type I	Macrocephaly, Hydrocephalus, Disproportionate short-limb short stature, Lethal short-limbed short...	OMIM:187600
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif...	OMIM:613494
Multiple Sulfatase Deficiency	Splenomegaly, Ventriculomegaly, Short stature, Hydrocephalus, CNS demyelination, Increased CSF pr...	OMIM:272200
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Short stature, Agenesis of corpus callosum, Secondary microcephaly, Partial agenesi...	OMIM:620113
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus, Macrocephaly, Microretrognathia, Fusion of the left and right th...	ORPHA:59315
Holocarboxylase Synthetase Deficiency	Coma, Skin rash, Irritability, Thrombocytopenia, Lethargy, Hyperventilation, Tachypnea	OMIM:253270
Familial Thyroid Dyshormonogenesis	Lethargy, Elevated circulating thyroid-stimulating hormone concentration	ORPHA:95716
Achondroplasia	Rhizomelia, Central sleep apnea, Macrocephaly, Hydrocephalus, Hypoxemia, Disproportionate short s...	ORPHA:15
Meningioma	Enlarged pituitary gland, Secondary growth hormone deficiency, Progressive pulmonary function imp...	ORPHA:2495
Methylmalonic Aciduria, Cbla Type	Anemia, Neutropenia, Coma, Respiratory distress, Pancytopenia, Failure to thrive, Thrombocytopeni...	OMIM:251100
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Delayed CNS myelination, Microcephaly, Lateral ventricle dilatation	OMIM:614105
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Plasminogen Deficiency, Type I	Conjunctivitis, Ventriculomegaly, Periodontitis, Hydrocephalus, Macrocephaly, Nephritis, Recurren...	OMIM:217090
Tetrasomy 5P	Pulmonary arterial hypertension, Micrognathia, Macrocephaly, Hydrocephalus, Respiratory distress,...	ORPHA:3309
Cholera	Aspiration pneumonia, Irritability, Muscle weakness, Loss of consciousness, Lethargy, Hyperventil...	ORPHA:173
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Muscle weakness, Failure to thrive, Focal T2 hyperintense thalamic lesion, Macrocytic anemia, Inc...	OMIM:619046
Hydrolethalus	Retrognathia, Laryngomalacia, Micrognathia, Anencephaly, Arrhinencephaly, Hydrocephalus, Agenesis...	ORPHA:2189
Dengue Fever	Leukopenia, Skin rash, Epistaxis, Cardiorespiratory arrest, Thrombocytopenia, Lethargy	ORPHA:99828
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu...	OMIM:619707
Ciliary Dyskinesia, Primary, 34	Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu...	OMIM:617091
Carnitine Palmitoyl Transferase 1A Deficiency	Coma, Lethargy, Loss of consciousness	ORPHA:156
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
3C Syndrome	Ventriculomegaly, Short stature, Micrognathia, Hydrocephalus, Macrocephaly, Dandy-Walker malforma...	ORPHA:7
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Lowry-Maclean Syndrome	Retrognathia, Talon cusp, Delayed eruption of primary teeth, Micrognathia, Hydrocephalus, Hypopla...	ORPHA:2409
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Hydrocephalus, Abnormality of neutrophils, Hypochromic anemia, Abnormality of the ...	ORPHA:2720
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Micrognathia, Hydrocephalus, Apnea, Muscle weakness, Progressive microcephaly	OMIM:614969
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Ventriculomegaly, Hydrocephalus, Macrocephaly, Hypoplasia of the zygomatic bone, Ag...	ORPHA:1812
Trisomy 1Q	Ventriculomegaly, Hydrocephalus, Macrocephaly, Microretrognathia, Agenesis of corpus callosum	ORPHA:261344
Triploidy	Meningocele, Micrognathia, Macrocephaly, Hydrocephalus, Holoprosencephaly, Intrauterine growth re...	ORPHA:3376
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Macrocephaly, Craniofacial osteoscl...	OMIM:618476
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Emotional lability, Apnea, Cardiorespiratory arrest, Lethargy, Decreased CSF homova...	OMIM:608643
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Microcephaly, Intrauterine growth retarda...	OMIM:611134
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Coma, Failure to thrive, Lethargy, Apnea	OMIM:210200
Crouzon Syndrome	Respiratory insufficiency, Hydrocephalus, Hypoplasia of the maxilla, Conjunctivitis	ORPHA:207
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Rhizomelia, Lateral ventricle dilatation, Short stature, Micrognathia, Progressive microc...	OMIM:611209
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Abnormal myelination, Growth delay, Microcephaly, Intrauterine growth retardation	OMIM:617333
Progeria-Short Stature-Pigmented Nevi Syndrome	Dental malocclusion, Abnormality of thalamus morphology, T lymphocytopenia, Short stature, Small ...	ORPHA:2959
New-Onset Refractory Status Epilepticus	Infectious encephalitis, CSF pleocytosis, Vegetative state, Abnormal thalamic MRI signal intensit...	ORPHA:363558
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification, Bradykinesia	OMIM:618824
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Joubert Syndrome 3	Neonatal breathing dysregulation, Lateral ventricle dilatation, Episodic tachypnea, Central apnea...	OMIM:608629
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity, Recurrent sinusitis, Rec...	OMIM:615707
Joubert Syndrome 14	Meningocele, Encephalocele, Hydrocephalus, Growth delay, Malar flattening, Irritability, Dandy-Wa...	OMIM:614424
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Hydrocephalus, Respiratory distress, Growth delay, Intrauterine gro...	OMIM:612863
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Respiratory arrest, Lethargy	OMIM:600649
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Aggressive behavior, Mandibular prognathia, Self-injurious behavior, Lateral ventri...	OMIM:618914
Bickerstaff Brainstem Encephalitis	Acute demyelinating polyneuropathy, Respiratory failure, Ophthalmoplegia, CSF pleocytosis, Coma, ...	ORPHA:79138
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Lower limb muscle weakness, Ophthalmopleg...	ORPHA:254930
Choanal Atresia	Laryngomalacia, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction...	ORPHA:137914
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ...	OMIM:243700
Fg Syndrome Type 1	Pulmonary arterial hypertension, Ventriculomegaly, Short stature, Micrognathia, Hydrocephalus, Ma...	ORPHA:93932
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Aggressive behavior, Lateral ventricle dilatation, Microcephaly, Agenesi...	OMIM:619244
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	CNS demyelination, T2 hypointense thalamus	OMIM:618193
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-stimulating hormone conc...	OMIM:101800
Hb Bart'S Hydrops Fetalis	Anemia, Hydrocephalus, Pericarditis, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Paganini-Miozzo Syndrome	Malar flattening, Mandibular prognathia, Lateral ventricle dilatation	OMIM:301025
Halperin-Birk Syndrome	Ventriculomegaly, Aspiration, Micrognathia, Semilobar holoprosencephaly, Failure to thrive, Intra...	OMIM:618651
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Micrognathia, Cutaneous...	OMIM:618282
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Muscle weakness, Microcephaly, Poor head control, Increased CSF lac...	ORPHA:565624
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Ventr...	ORPHA:397715
Coccidioidomycosis	Exudative pleural effusion, Pericarditis, Eosinophilia, Panniculitis, Pneumonia, Abscess, Hypogly...	ORPHA:228123
Cog5-Cdg	Retrognathia, Delayed myelination, Short stature, Lateral ventricle dilatation, Hepatosplenomegal...	ORPHA:263487
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Apathy, Gliosis, Lateral ventricle dilatation	OMIM:607485
Acquired Aneurysmal Subarachnoid Hemorrhage	Coma, Hyperglycorrhachia, Hydrocephalus, Hypopituitarism, Leukocytosis, Increased CSF lactate	ORPHA:90065
Joubert Syndrome With Renal Defect	Encephalocele, Biparietal narrowing, Hydrocephalus, Apnea, Abnormal pattern of respiration, Agene...	ORPHA:220497
47,Xyy Syndrome	Asthma, Macrocephaly, Azoospermia, Hydrocephalus, Increased circulating gonadotropin level, Oligo...	ORPHA:8
Muenke Syndrome	Malar flattening, Macrocephaly, Hydrocephalus	ORPHA:53271
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Retrognathia, Dilated third ventricle, Aggressive behavior, Self-injurious behavior, Lateral vent...	ORPHA:544488
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Macrocephaly, Hydrocephalus, Malar flattening, Dandy-Walker malforma...	OMIM:612582
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Glutaric Acidemia Type 3	Failure to thrive, Lethargy	ORPHA:35706
Thanatophoric Dysplasia Type 1	Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Macrocephaly, Lethal short-limbed sho...	ORPHA:1860
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Aqueductal stenosis, Hydrocephalus, Stillbirth, Respiratory failure	OMIM:276950
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification, Bradykinesia	OMIM:618317
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Intrauterine growth retardation	ORPHA:163966
Mirage Syndrome	Leukopenia, Anemia, Decreased body weight, Aspiration pneumonia, Short stature, Hydrocephalus, Ly...	OMIM:617053
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hydrocephalus, Delayed CNS myelination, Thrombocytopenia, Growth delay, Aplasti...	OMIM:300514
Immunodeficiency 70	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre...	OMIM:618969
Mucopolysaccharidosis, Type Vii	Short stature, Macrocephaly, Hydrocephalus, Recurrent otitis media, Airway obstruction, Recurrent...	OMIM:253220
Diabetic Embryopathy	Hydrocephalus, Micrognathia, Spinal dysraphism, Microcephaly	ORPHA:1926
Distal Monosomy 10Q	Aggressive behavior, Lateral ventricle dilatation, Short stature, Micrognathia, Facial diplegia, ...	ORPHA:96148
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypopituita...	ORPHA:226307
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hydrocephalus	OMIM:601794
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Aqueductal stenosis, Self-injurious behavior, Micrognathia, Macrocephaly, ...	OMIM:619512
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:449291
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Neutropenia, Short stature, Reticulocytopenia, Small for gest...	ORPHA:124
Biotinidase Deficiency	Conjunctivitis, Laryngeal stridor, Skin rash, Respiratory distress, Apnea, Myelopathy, Eczematoid...	ORPHA:79241
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia...	ORPHA:449395
Arachnoid Cyst	Oculomotor nerve palsy, Diminished motivation, Encephalocele, Lower limb muscle weakness, Hydroce...	ORPHA:2356
Trisomy 17P	Short stature, Micrognathia, Hydrocephalus, Growth delay, Microcephaly, Malar flattening, Intraut...	ORPHA:261290
1Q21.1 Microdeletion Syndrome	Short stature, Hydrocephalus, Failure to thrive, Microcephaly, Anxiety, Intrauterine growth retar...	ORPHA:250989
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, D...	OMIM:617296
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Proportionate short stature, Failure to thrive, Confusion, Lethargy, Intrauterine growth retardation	ORPHA:71212
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Macrocephaly, Ventriculomegaly	OMIM:603387
Igg4-Related Ophthalmic Disease	Abnormality of the anterior pituitary, Increased circulating IgG4 level, Abnormality of the sphen...	ORPHA:449563
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Polysplenia, Chronic otitis media, Decreased nasal nitric oxide, Chronic sinusitis	OMIM:619608
Ciliary Dyskinesia, Primary, 3	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat...	OMIM:608644
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Abnormal myelination, Failure to thrive, Microcephaly, Poor head control	ORPHA:442835
Kohlschutter-Tonz Syndrome-Like	Enamel hypoplasia, Decreased body weight, Ventriculomegaly, Lateral ventricle dilatation, Delayed...	OMIM:619229
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Carnitine Palmitoyltransferase I Deficiency	Coma, Lethargy	OMIM:255120
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, External ophthalmoplegia, Ventriculomegaly, Hydrocephalus, Macrocephaly, M...	OMIM:613603
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Secondary microcephaly, Fusion of the left and right thalami, Accessory...	OMIM:619306
Joubert Syndrome With Ocular Defect	Encephalocele, Biparietal narrowing, Hydrocephalus, Apnea, Abnormal pattern of respiration, Agene...	ORPHA:220493
Multiple Sulfatase Deficiency	Short stature, Hydrocephalus, Macrocephaly, Microcephaly, Splenomegaly	ORPHA:585
Maple Syrup Urine Disease	Coma, Lethargy, Pancreatitis	OMIM:248600
Gorlin Syndrome	Carious teeth, Hydrocephalus, Mandibular prognathia	ORPHA:377
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Micrognathia, Hydrocephalus, Macrocephaly, Pleural effusion, Dandy-Walker malfo...	OMIM:617822
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast...	ORPHA:217390
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Delayed myelination, Decreased CSF homovanillic acid concentration, Ventriculomegaly, Decreased C...	ORPHA:404454
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia, Episodic tachypnea, Emotional lability, Apnea, Focal T2 hyperintense thalam...	ORPHA:79264
Khan-Khan-Katsanis Syndrome	Anemia, Ventriculomegaly, Short stature, Micrognathia, Lymphopenia, Failure to thrive, Microcepha...	OMIM:618460
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Chronic sinusitis, Recurrent otitis media, Cough	OMIM:619607
Arachnoiditis	Muscle weakness, Hydrocephalus	ORPHA:137817
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Micrognathia, Biparietal narrowing, Increased mean corpuscular volume, Thromboc...	ORPHA:261250
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus	OMIM:615862
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Dental malocclusion, Short stature, Natal tooth, Laryngeal web, Micro...	OMIM:300373
Dural Sinus Malformation	Macrocephaly, Hydrocephalus, Apathy, Muscle weakness, Myelopathy	ORPHA:97339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Holoprosencephaly 14	Ventriculomegaly, Aqueductal stenosis, Macrocephaly, Hydrocephalus, Alobar holoprosencephaly, Sub...	OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Ciliary Dyskinesia, Primary, 22	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv...	OMIM:615444
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
Weiss-Kruszka Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Cerebral arteriovenous malformation, Hydrocephalus, Chylothorax	ORPHA:137667
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Distal upper limb muscle weakness, Limb-girdle muscle weakness, Generalized muscle weakness, Prox...	ORPHA:466768
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Coma, Hydrocephalus, Muscle weakness, Neonatal respiratory distress...	ORPHA:157
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Retrognathia, Mandibular prognathia, Micrognathia, Agenesis of c...	ORPHA:314585
Ciliary Dyskinesia, Primary, 19	Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ...	OMIM:614935
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Combined Oxidative Phosphorylation Defect Type 23	Leukodystrophy, Failure to thrive, Abnormal thalamic MRI signal intensity, Stridor, Respiratory f...	ORPHA:444013
Genitopalatocardiac Syndrome	Micrognathia, Hydrocephalus, Microcephaly, Intrauterine growth retardation	ORPHA:2075
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Abnormality of thalamus morphology	OMIM:613724
Marburg Hemorrhagic Fever	Leukopenia, Maculopapular exanthema, Aggressive behavior, Drowsiness, Increased circulating antib...	ORPHA:99826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Encephalocele, Ventriculomegaly, Hydrocephalus, Macrocephaly, Partial agenesis of t...	OMIM:614643
Cockayne Syndrome A	Patchy demyelination of subcortical white matter, Splenomegaly, Dental malocclusion, Mandibular p...	OMIM:216400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Growth delay, Agenesis of corpus callosum	ORPHA:77298
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr...	OMIM:616576
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Anterior pituitary hypoplasia, Decreased response to gr...	OMIM:610829
Cockayne Syndrome B	Patchy demyelination of subcortical white matter, Splenomegaly, Dental malocclusion, Mandibular p...	OMIM:133540
7Q11.23 Microduplication Syndrome	Retrognathia, Dental malocclusion, Aggressive behavior, Ventriculomegaly, Short stature, Self-inj...	ORPHA:96121
Biotinidase Deficiency	Conjunctivitis, Skin rash, Apnea, Recurrent skin infections, Lethargy, Splenomegaly, Seborrheic d...	OMIM:253260
Encephalocraniocutaneous Lipomatosis	Dandy-Walker malformation, Astrocytoma, Hydrocephalus, Agenesis of corpus callosum	OMIM:613001
Fanconi Anemia, Complementation Group D2	Anemia, Short stature, Reticulocytopenia, Small for gestational age, Hydrocephalus, Pancytopenia,...	OMIM:227646
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Encephalocele, Micrognathia, Hydrocephalus, Severe short stature, Micr...	ORPHA:1865
Isolated Thyroid-Stimulating Hormone Deficiency	Increased circulating prolactin concentration, Failure to thrive, Decreased thyroid-stimulating h...	ORPHA:90674
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Short stature, Micrognathia, Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Pearson Marrow-Pancreas Syndrome	Anemia, Neutropenia, Reticulocytopenia, Small for gestational age, Refractory sideroblastic anemi...	OMIM:557000
H Syndrome	Short stature, Bronchiectasis, Hydrocephalus, Azoospermia, Recurrent pharyngitis, Hepatosplenomeg...	ORPHA:168569
Bainbridge-Ropers Syndrome	Retrognathia, Laryngomalacia, Self-injurious behavior, Lateral ventricle dilatation, Micrognathia...	OMIM:615485
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti...	OMIM:615518
Holoprosencephaly 7	Hypoplasia of the premaxilla, Macrocephaly, Hydrocephalus, Semilobar holoprosencephaly, Lobar hol...	OMIM:610828
Joubert Syndrome 2	Neonatal breathing dysregulation, Encephalocele, Episodic tachypnea, Macrocephaly, Hydrocephalus,...	OMIM:608091
Stromme Syndrome	Micrognathia, Hydrocephalus, Accessory spleen, Stillbirth, Microcephaly, Agenesis of corpus callosum	OMIM:243605
Joubert Syndrome	Encephalocele, Episodic tachypnea, Biparietal narrowing, Hydrocephalus, Apnea, Abnormal pattern o...	ORPHA:475
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Intercostal retractions, Failure to thrive, Crackles, Recurre...	ORPHA:1329
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Micrognathia, Hydrocephalus, Severe short stature, Neonatal short-limb short statu...	OMIM:224400
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothalamic hamartoma, Growth delay, CNS hypomyelination	OMIM:619908
Proteus-Like Syndrome	Mandibular prognathia, Macrocephaly, Hydrocephalus, Communicating hydrocephalus, Thymus hyperplas...	ORPHA:2969
Gracile Bone Dysplasia	Asplenia, Short stature, Hydrocephalus, Failure to thrive, Hypoplastic spleen	OMIM:602361
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Coma, Lethargy	OMIM:201450
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Abnormality of thalamus morphology, Anxiety	ORPHA:404440
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Coma, Failure to thrive, Lethargy, Seborrheic dermatitis	OMIM:210210
Joubert Syndrome With Oculorenal Defect	Encephalocele, Biparietal narrowing, Hydrocephalus, Apnea, Tachypnea	ORPHA:2318
Prader-Willi Syndrome Due To Translocation	Retrognathia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes...	ORPHA:177907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Micrognathia, Hydrocephalus, Meningoencephalocele, Dandy-Walker malformation, E...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Respiratory insufficiency, Encephalocele, Hydrocephalus, Muscle weakness, Holoprosencephaly, Agen...	OMIM:253800
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	External ophthalmoplegia, Abnormal mitochondrial shape, Muscle weakness, Secondary microcephaly, ...	ORPHA:485421
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Decreased circulating antibody level, Communicating hydrocephalus, Sideroblast...	OMIM:616084
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Abnormality of the spleen, Hydrocephalus, Short stature	ORPHA:1834
Hurler Syndrome	Short stature, Abnormal CNS myelination, Macrocephaly, Hydrocephalus, Recurrent otitis media, Hep...	OMIM:607014
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Delayed myelination, Increased head circumference, Lateral ventricle dilatation, Micrognathia, Ma...	OMIM:300868
Dubowitz Syndrome	Respiratory insufficiency, Anemia, Short stature, Delayed eruption of teeth, Asthma, Micrognathia...	ORPHA:235
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Recurrent otitis media, Short stature, Lateral ventricle dilatation	OMIM:619995
Lysinuric Protein Intolerance	Respiratory insufficiency, Leukopenia, Anemia, Tubulointerstitial nephritis, Decreased response t...	ORPHA:470
Cystic Fibrosis	Pneumothorax, Bronchiectasis, Asthma, Failure to thrive, Airway obstruction, Sinusitis, Anxiety, ...	ORPHA:586
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology	ORPHA:397725
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Leukopenia, Encephalocele, Hydrocephalus, Failure to thrive, Thr...	ORPHA:974
Pelvis-Shoulder Dysplasia	Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Micrognathia, Hydrocephalus, H...	ORPHA:2839
Marfanoid-Progeroid-Lipodystrophy Syndrome	Retrognathia, Keratoconjunctivitis sicca, Macrocephaly, Hydrocephalus, Lateral ventricular asymme...	OMIM:616914
Achondroplasia	Rhizomelia, Macrocephaly, Hydrocephalus, Respiratory distress, Recurrent otitis media, Upper airw...	OMIM:100800
Ciliary Dyskinesia, Primary, 5	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:608647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Hydrocephalus, Microcephaly, Agenesis of corpus callosum	OMIM:613150
Cerebral Visual Impairment	Infectious encephalitis, Hydrocephalus, Microcephaly	ORPHA:447788
Isotretinoin-Like Syndrome	Micrognathia, Hydrocephalus, Lymphopenia, Microcephaly, Intrauterine growth retardation, Postnata...	ORPHA:2306
Apert Syndrome	Respiratory insufficiency, Mandibular prognathia, Ventriculomegaly, Delayed eruption of teeth, Hy...	ORPHA:87
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Increased head circumference, Communicating hydrocephalus, Subependymal nodules...	ORPHA:25
Marshall-Smith Syndrome	Retrognathia, Short mandibular rami, Pulmonary arterial hypertension, Laryngomalacia, Decreased b...	OMIM:602535
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly, Abnormality of the diencephalon, Microcephaly	ORPHA:2165
Distal Tetrasomy 15Q	Retrognathia, Micrognathia, Hydrocephalus, Large for gestational age, Intrauterine growth retarda...	ORPHA:314588
Multiple Endocrine Neoplasia Type 1	Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Weight loss, Coma, Epen...	ORPHA:652
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Absent central microtubular pair mor...	OMIM:620032
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Malar flattening, Delayed myelination, Hydrocephalus, Mandibular prognathia	OMIM:239300
Cardiofaciocutaneous Syndrome 1	Dental malocclusion, Atopic dermatitis, Short stature, Micrognathia, Macrocephaly, Relative macro...	OMIM:115150
Citrullinemia, Classic	Lethargy, Failure to thrive, Irritability, Coma	OMIM:215700
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Retrognathia, Mandibular prognathia, Short stature, Failure to thrive, Microcephaly, Malar flatte...	OMIM:620083
Holoprosencephaly	Respiratory insufficiency, Spinal dysraphism, Encephalocele, Anterior hypopituitarism, Macrocepha...	ORPHA:2162
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Communicating hydrocephalus, Short stature	ORPHA:1861
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly, Lateral ventricle dilata...	OMIM:615873
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Hypoplasia of the epiglottis, Natal tooth, Micrognathia, Hydrocephalus, Holopro...	OMIM:612651
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Retrognathia, Dilated third ventricle, Aggressive behavior, Mand...	ORPHA:464738
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Leukopenia, Anemia, Delayed myelination, Conjunctivitis, Hydroce...	ORPHA:505248
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Choroid plexus cyst, Promine...	OMIM:304050
Jacobsen Syndrome	Micrognathia, Hydrocephalus, Macrocephaly, Failure to thrive, Holoprosencephaly, Microcephaly, Th...	OMIM:147791
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Abnormality of the larynx, Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Short stature, Hydrocephalus, Reduced forced vital capacity, Spina bifida occul...	OMIM:613686
Raine Syndrome	Enamel hypoplasia, Mandibular prognathia, Short stature, Natal tooth, Micrognathia, Hydrocephalus...	OMIM:259775
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Micrognathia, Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Pneumonia, Postnatal growth retardation, Talon cusp, Aggressive behavior, Asthma, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Pneumonia, Postnatal growth retardation, Talon cusp, Aggressive behavior, Asthma, A...	ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation	Laryngomalacia, Decreased response to growth hormone stimulation test, Ventriculomegaly, Small fo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Laryngomalacia, Decreased response to growth hormone stimulation test, Ventriculomegaly, Small fo...	ORPHA:363958
Mucopolysaccharidosis, Type Vi	Pulmonary arterial hypertension, Short stature, Delayed eruption of teeth, Macrocephaly, Hydrocep...	OMIM:253200
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Microcephaly, Agenesis of corpus callosum	OMIM:264480
Crouzon Syndrome	Conjunctivitis, Mandibular prognathia, Hydrocephalus, Hypoplasia of the maxilla, Keratitis, Sleep...	OMIM:123500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Ventriculomegaly, Suicidal ideation, Violent behavior, Aggressive behavior...	OMIM:619475
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Neuroferritinopathy	T2 hypointense thalamus, Emotional lability, Abnormal thalamic MRI signal intensity, Increased CS...	ORPHA:157846
Posterior Urethral Valve	Retrognathia, Lethargy, Pyelonephritis, Postnatal growth retardation	ORPHA:93110
Orofaciodigital Syndrome I	Enamel hypoplasia, Myelomeningocele, Short stature, Hydrocephalus, Supernumerary tooth, Microretr...	OMIM:311200
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Asthma, R...	OMIM:615577
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive, Irritability, Coma	OMIM:311250
Cystic Fibrosis	Bronchiectasis, Asthma, Chronic sinusitis, Reduced forced vital capacity, Hepatosplenomegaly, Fai...	OMIM:219700
Panhypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Familial Hypoaldosteronism	Failure to thrive, Lethargy, Growth delay	ORPHA:427
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Decreased response to growth hormone stimulation test, Short stature, Micr...	OMIM:616007
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Lethargy, External ophthalmoplegia	OMIM:201470
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Hydrocephalus, Macrocephaly, Malar flattening, Dandy-Walker malf...	OMIM:605627
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Ventriculomegaly, Coma, Hydrocephalus, Neonatal respiratory distres...	ORPHA:228308
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus, Laryngeal atresia	OMIM:314390
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Bronchie...	ORPHA:293978
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Phace Syndrome	Cerebral arteriovenous malformation, Dandy-Walker malformation, Microcephaly, Agenesis of corpus ...	ORPHA:42775
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased...	OMIM:617765
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Beemer-Ertbruggen Syndrome	Respiratory insufficiency, Micrognathia, Thrombocytopenia, Communicating hydrocephalus	ORPHA:1237
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Prostatitis, Ophthalmoplegia, Hydrocephalus, Respiratory distre...	ORPHA:1546
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Natal tooth, Hydrocephalus, Respiratory distress, Malar flattening, Agenesis of...	OMIM:123790
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Malar flattening, Delayed CNS myelination, Hydrocephalus	OMIM:618590
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida, Micrognathia, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Aggressive behavior, Low frustration tolerance, Macrocephaly, Lateral ventricle dilatation	ORPHA:457279
Marden-Walker Syndrome	Retrognathia, Micrognathia, Hydrocephalus, Failure to thrive, Severe short stature, Microcephaly,...	ORPHA:2461
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Lethargy, Megaloblastic anemia	OMIM:277410
Congenital Sialidosis Type 2	Macrocephaly, Hydrocephalus, Hepatosplenomegaly	ORPHA:93400
Mucopolysaccharidosis Type 3	Aggressive behavior, Aspiration pneumonia, Ventriculomegaly, Fatigable weakness of swallowing mus...	ORPHA:581
Osteootohepatoenteric Syndrome	Anemia, Weight loss, Asthma, Hydrocephalus, Failure to thrive	OMIM:619377
22Q11.2 Deletion Syndrome	Meningocele, Hypoplasia of the thymus, Micrognathia, Impaired T cell function, Thrombocytopenia, ...	ORPHA:567
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Micrognathia, Delayed CNS myelination, Anxiety, Malar flattening, I...	OMIM:617557
Sandhoff Disease, Infantile Form	Progressive macrocephaly, Abnormal thalamic MRI signal intensity, CNS hypomyelination, Hepatosple...	ORPHA:309155
Argininosuccinic Aciduria	Lethargy, Failure to thrive, Irritability, Coma	OMIM:207900
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Splenomegaly, Natal tooth, Anencephaly, Macrocephaly, Hydrocephalus, H...	OMIM:269860
Shprintzen-Goldberg Craniosynostosis Syndrome	Dental malocclusion, Micrognathia, Hydrocephalus, Hypoplasia of the maxilla, Abdominal wall muscl...	OMIM:182212
Joubert Syndrome With Hepatic Defect	Macrocephaly, Biparietal narrowing, Hydrocephalus, Apnea, Abnormal pattern of respiration, Occipi...	ORPHA:1454
Cole-Carpenter Syndrome	Short stature, Delayed eruption of teeth, Micrognathia, Communicating hydrocephalus, Intrauterine...	ORPHA:2050
Cardiofaciocutaneous Syndrome	Short stature, Macrocephaly, Biparietal narrowing, Hydrocephalus, Hypoplasia of the zygomatic bon...	ORPHA:1340
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Acanthocytosis, Aggressive behavior, Head...	ORPHA:2388
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Choroid plexus cyst, Lateral ventricle dilatation, Primary microcephaly	ORPHA:293725
Lateral Meningocele Syndrome	Meningocele, Short stature, Micrognathia, Hydrocephalus, Malar flattening, Obstructive sleep apnea	OMIM:130720
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Decreased circulating total IgM, Allergic rhinitis, Asthma, Hydrocephalus, Eczema	OMIM:618162
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Micrognathia, Hydrocephalus, Leukemia	OMIM:619951
Apert Syndrome	Rhizomelic arm shortening, Dental malocclusion, Mandibular prognathia, Ventriculomegaly, Delayed ...	OMIM:101200
Pfeiffer Syndrome Type 2	Laryngomalacia, Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia, Malar f...	ORPHA:93259
3P25.3 Microdeletion Syndrome	Micrognathia, Mandibular prognathia, Abnormality of thalamus morphology	ORPHA:435638
Opitz-Kaveggia Syndrome	Short stature, Micrognathia, Relative macrocephaly, Hydrocephalus, Partial agenesis of the corpus...	OMIM:305450
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Hydrocephalus, Mandibular prognathia	OMIM:601499
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Full Nf2-Related Schwannomatosis	Astrocytoma, Wrist drop, Ependymoma, Hydrocephalus, Foot dorsiflexor weakness, Myelopathy, Glioma...	ORPHA:637
Pfeiffer Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Mandibular prognathia	OMIM:101600
Poikiloderma With Neutropenia	Retrognathia, Leukopenia, Conjunctivitis, Short stature, Micrognathia, Skin rash, Recurrent sinus...	OMIM:604173
Mohr Syndrome	Short stature, Micrognathia, Hydrocephalus, Hypoplasia of the maxilla, Malar flattening, Agenesis...	OMIM:252100
Ciliary Dyskinesia, Primary, 42	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr...	OMIM:618695
Orofaciodigital Syndrome Type 6	Short stature, Episodic tachypnea, Micrognathia, Biparietal narrowing, Apnea, Failure to thrive, ...	ORPHA:2754
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Coma, Hepatitis, Failure to thrive, Confusion, Lethargy, Tachypnea	ORPHA:415
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Genetic Transient Congenital Hypothyroidism	Lethargy, Elevated circulating thyroid-stimulating hormone concentration	ORPHA:226316
Neurofibromatosis, Type I	Astrocytoma, Aqueductal stenosis, Short stature, Spina bifida, Macrocephaly, Hydrocephalus, Optic...	OMIM:162200
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Abnormality of the sphenoid sinus, Drowsiness, Macrocephaly, Communicating...	ORPHA:309282
Smith-Lemli-Opitz Syndrome	Splenomegaly, Aggressive behavior, Short stature, Micrognathia, Hydrocephalus, Eczema, Microretro...	OMIM:270400
Fanconi Anemia, Complementation Group L	Anemia, Micrognathia, Hydrocephalus, Delayed CNS myelination, Growth delay, Bone marrow hypocellu...	OMIM:614083
Histidinemia	Hyperactivity	ORPHA:2157
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hypoplastic frontal sinuses, Micrognathia, Hydrocephalus, Failur...	ORPHA:90652
Shprintzen-Goldberg Syndrome	Retrognathia, Ventriculomegaly, Micrognathia, Communicating hydrocephalus, Apnea, Failure to thri...	ORPHA:2462
Cousin Syndrome	Rhizomelia, Micrognathia, Macrocephaly, Hydrocephalus, Hydranencephaly, Disproportionate short st...	OMIM:260660
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Hydrocephalus, Respiratory distress	ORPHA:1555
Hec Syndrome	Respiratory insufficiency, Communicating hydrocephalus, Abnormality of the pharynx	ORPHA:2119
Orofaciodigital Syndrome Vi	Short stature, Micrognathia, Arrhinencephaly, Failure to thrive, Occipital meningocele, Hypothala...	OMIM:277170
Weaver Syndrome	Retrognathia, Mandibular prognathia, Ventriculomegaly, Lateral ventricle dilatation, Macrocephaly...	OMIM:277590
Monosomy 9Q22.3	Ventriculomegaly, Delayed eruption of teeth, Hydrocephalus, Macrocephaly, Large for gestational age	ORPHA:77301
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Respiratory insufficiency, Lateral ventricle dilatation, Micrognathia, Hydrocephalus, Failure to ...	OMIM:210710
Meckel Syndrome, Type 1	Dilated fourth ventricle, Asplenia, Splenomegaly, Ventriculomegaly, Natal tooth, Micrognathia, An...	OMIM:249000
Oxoglutaric Aciduria	Hydrocephalus, Short stature	ORPHA:31
Keutel Syndrome	Cartilaginous ossification of larynx, Recurrent bronchitis, Chronic sinusitis, Recurrent otitis m...	OMIM:245150
Pallister-Hall Syndrome	Laryngeal cleft, Neonatal death, Decreased response to growth hormone stimulation test, Short sta...	OMIM:146510
Cirrhosis, Familial	Pulmonary arterial hypertension, Lethargy, Fulminant hepatitis	OMIM:215600
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Short stature, Periodontitis, Micrognathia, Macrocephaly, Hydroceph...	ORPHA:955
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Micrognathia, Communicating hydrocephalus, Short stature	ORPHA:1064
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Aqueductal stenosis, Short stature, Hypoplasia of the epiglottis, Temporomandibular...	OMIM:154400
Immunodeficiency 56	Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangiti...	OMIM:615207
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus	OMIM:243440
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Elevated circulating thyroid-stimulating hormone concentration	ORPHA:90673
Neurocardiofaciodigital Syndrome	Retrognathia, Dilated fourth ventricle, Lateral ventricle dilatation, Short stature, Small for ge...	OMIM:619869
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Lethargy, Intrauterine growth retardation, Respiratory distress	OMIM:617156
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Agenesis of corpus callosum, Delayed eruption of primary teeth, Lateral ventri...	OMIM:300952
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Anemia, Bacterial endocarditis, Ventriculomegaly, Ophthalmoplegi...	ORPHA:2072
Hurler Syndrome	Rhinitis, Short stature, Hydrocephalus, Growth delay, Splenomegaly	ORPHA:93473
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Macrocephaly, Hydrocephalus, Severe short stature, Facial hyperostosis, Ab...	ORPHA:2658
Noonan Syndrome 14	Short stature, Lymphopenia, Lateral ventricle dilatation	OMIM:619745
Wiedemann-Rautenstrauch Syndrome	Sudanophilic leukodystrophy, Hypoplasia of the thymus, Short stature, Natal tooth, Small for gest...	OMIM:264090
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus	ORPHA:1947
Mend Syndrome	Aggressive behavior, Short stature, Micrognathia, Hydrocephalus, Failure to thrive, Dandy-Walker ...	ORPHA:401973
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Anterior pituitary hypoplasia, Aggressive behavior, Self-injurious behavior,...	OMIM:619841
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Mandibular aplasia, Micrognathia, Hydrocephalus, Respiratory distress, Failure to t...	ORPHA:2556
Kufor-Rakeb Syndrome	Generalized muscle weakness, Apathy, Confusion, Lethargy, Bradykinesia	ORPHA:306674
Wolf-Hirschhorn Syndrome	Ventriculomegaly, Short stature, Craniofacial asymmetry, Small for gestational age, Micrognathia,...	OMIM:194190
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Respiratory insufficiency, Anemia, Short stature, Hydrocephalus, Microcephaly, Thrombocytopenia, ...	ORPHA:163979
Agammaglobulinemia 1, Autosomal Recessive	Conjunctivitis, Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating a...	OMIM:601495
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Cerebral arteriovenous malformation, Micrognathia, Mild postnatal growth r...	OMIM:150230
Vacterl With Hydrocephalus	Retrognathia, Aqueductal stenosis, Spina bifida, Micrognathia, Arrhinencephaly, Hydrocephalus, In...	ORPHA:3412
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Tachypnea	OMIM:615751
Keppen-Lubinsky Syndrome	Respiratory insufficiency, Lateral ventricle dilatation, Micrognathia, Failure to thrive, Recurre...	OMIM:614098
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Dental malocclusion, Noncommunicating hydrocephalus, Ventriculomegaly,...	ORPHA:666
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Delayed myelination, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:457284
Campomelic Dysplasia	Tracheobronchomalacia, Spinal dysraphism, Spina bifida, Micrognathia, Macrocephaly, Relative macr...	OMIM:114290
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Upper airway obstruction, Malar flattening, Hydrocephalus	OMIM:207410
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Fontaine Progeroid Syndrome	Retrognathia, Respiratory insufficiency, Pulmonary arterial hypertension, Mandibular prognathia, ...	OMIM:612289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Dentinogenesis imperfecta, Repeated pneumothoraces, Micrognathia, Hydr...	ORPHA:536467
Hereditary Fructose Intolerance	Coma, Lethargy, Growth delay	ORPHA:469
Fanconi Anemia	Leukopenia, Anemia, Ventriculomegaly, Weight loss, Short stature, Spina bifida, Pyridoxine-respon...	ORPHA:84
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Microretrognathia	OMIM:245600
Mosaic Trisomy 1	Agenesis of corpus callosum, Macrocephaly, Microretrognathia, Lateral ventricle dilatation	ORPHA:1692
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Anemia, Delayed eruption of teeth, Macrocephaly, Hydrocephalus, ...	ORPHA:667
Exercise-Induced Malignant Hyperthermia	Hypocapnia, Delirium, Muscle weakness, Crackles, Confusion, Thrombocytopenia, Lethargy, Tachypnea	ORPHA:466650
Kabuki Syndrome	Ventriculomegaly, Short stature, Hydrocephalus, Failure to thrive, Microcephaly, Obesity	ORPHA:2322
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Mandibular prognathia, Lateral ventricle dilatation, Delayed CNS myelination, ...	OMIM:300896
Parkes Weber Syndrome	Cerebral arteriovenous malformation, Myelopathy, Lower limb muscle weakness	ORPHA:90307
Hajdu-Cheney Syndrome	Dental malocclusion, Short stature, Micrognathia, Hydrocephalus, Failure to thrive, Absent fronta...	OMIM:102500
Gaucher Disease	Respiratory insufficiency, Pulmonary arterial hypertension, Anemia, Osteomyelitis, Ventriculomega...	ORPHA:355
Kabuki Syndrome 1	Hemolytic anemia, Short stature, Lateral ventricle dilatation, Recurrent aspiration pneumonia, Mi...	OMIM:147920
Holoprosencephaly 13, X-Linked	Micrognathia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Agenesis of co...	OMIM:301043
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Ventriculomegaly, Macrocephaly, Communicating hydrocephalus, Large for ges...	OMIM:617011
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Holoprosencephaly, Micr...	ORPHA:2166
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Tracheomalacia, Agenesis of corpus callosum	ORPHA:268249
Aymé-Gripp Syndrome	Ventriculomegaly, Short stature, Hydrocephalus, Pericarditis, Postnatal growth retardation	ORPHA:1272
Trisomy 8P	Retrognathia, Agenesis of corpus callosum, Hydrocephalus, Recurrent upper respiratory tract infec...	ORPHA:264450
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation, Small pituitary gland, Disproportionate short-lim...	OMIM:619479
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Short stature, Agenesis of corpus callosum, Microcephaly, Hypothal...	OMIM:206900
Degcags Syndrome	Ventriculomegaly, Micrognathia, Abnormal myelination, Hepatosplenomegaly, Pneumonia, Laryngomalac...	OMIM:619488
Lhermitte-Duclos Disease	Macrocephaly, Hydrocephalus	ORPHA:65285
Wiedemann-Rautenstrauch Syndrome	Recurrent skin infections, Slender build, Laryngomalacia, Hydrocephalus, Recurrent otitis media, ...	ORPHA:3455
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Thakker-Donnai Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum	ORPHA:1780
Sturge-Weber Syndrome	Pulmonary embolism, Macrocephaly, Hydrocephalus	ORPHA:3205
Pseudoaminopterin Syndrome	Asplenia, Short stature, Ophthalmoplegia, Fatigable weakness, Micrognathia, Macrocephaly, Hydroce...	ORPHA:221120
Bone Marrow Failure Syndrome 6	Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularit...	OMIM:618849
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Mandibular aplasia, Spina bifida,...	ORPHA:63259
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Dilated third ventricle, Abnormal myelination, Supernumerary tooth, Mic...	ORPHA:434179
Genitourinary And/Or Brain Malformation Syndrome	Micrognathia, Macrocephaly, Secondary microcephaly, Holoprosencephaly, Dysplastic corpus callosum...	OMIM:618820
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Gaucher Disease, Type Iiic	Supranuclear ophthalmoplegia, Hydrocephalus, Splenomegaly, Pancytopenia	OMIM:231005
Mend Syndrome	Short stature, Micrognathia, Hydrocephalus, Microretrognathia, Failure to thrive, Dandy-Walker ma...	OMIM:300960
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Emotional lability	OMIM:620047
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Generalized muscle weakness, Ventriculomegaly, Micrognathia, Hydrocephalus, Muscle weakness, Micr...	OMIM:253280
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity, Proximal muscle weakness, Ophthalmoparesis	ORPHA:70595
Posterior Meningocele	Meningocele, Increased head circumference, Neural tube defect, Occipital meningocele, Hydrocephal...	ORPHA:268810
6Q Terminal Deletion Syndrome	Micrognathia, Macrocephaly, Failure to thrive, Obesity, Colpocephaly	ORPHA:75857
Costello Syndrome	Respiratory insufficiency, Pneumothorax, Ventriculomegaly, Short stature, Micrognathia, Hydroceph...	OMIM:218040
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Hydrocephalus, Microcephaly, Leukocytosis, Abdominal obesity, Intrauterine growth ...	OMIM:619321
Tuberous Sclerosis Complex	Aggressive behavior, Noncommunicating hydrocephalus, Self-injurious behavior, Pituitary adenoma, ...	ORPHA:805
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Delayed myelination, Macrocephaly, Colpocephaly	ORPHA:477993
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Elevated circulating thyroid-stimulating hormone concentration, Growth delay, Stridor	OMIM:218700
Basal Cell Nevus Syndrome 1	Spina bifida, Macrocephaly, Hydrocephalus, Mandibular prognathia	OMIM:109400
Eisenmenger Syndrome	Pulmonary arterial hypertension, Brain abscess, Bacterial endocarditis, Exertional dyspnea, Hypox...	ORPHA:97214
Wiskott-Aldrich Syndrome	Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D...	OMIM:301000
Pentalogy Of Cantrell	Polysplenia, Anencephaly, Hydrocephalus, Encephalocele	ORPHA:1335
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Hydrocephalus, Macrocephaly, Biparietal narrowing, Microcephaly	ORPHA:261337
Fraser Syndrome 3	Micrognathia, Hydrocephalus, Stillbirth	OMIM:617667
Mucopolysaccharidosis Type 2	Aggressive behavior, Short stature, Hip osteoarthritis, Temporomandibular joint ankylosis, Macroc...	ORPHA:580
Chromosome 1P36 Deletion Syndrome, Distal	Aggressive behavior, Lateral ventricle dilatation, Hydrocephalus, Delayed CNS myelination, Microc...	OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Dandy-Walker malformat...	OMIM:615287
Juvenile Polyposis Syndrome	Pulmonary arterial hypertension, Anemia, Brain abscess, Cerebral arteriovenous malformation, Spon...	ORPHA:2929
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Ventriculomegaly, Macrocephaly, Communicating hydrocephalus, Large for ges...	ORPHA:457359
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Ophthalmoplegia, Decreased circulating antibody level, Erythema nodosum, Skin...	OMIM:615688
Meckel Syndrome	Asplenia, Encephalocele, Micrognathia, Anencephaly, Hydrocephalus, Lobar holoprosencephaly, Micro...	ORPHA:564
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Short stature, Primary microcephaly, Micrognathia, Arrhinencepha...	ORPHA:3472
Peters-Plus Syndrome	Decreased body weight, Ventriculomegaly, Rhizomelia, Birth length less than 3rd percentile, Agene...	OMIM:261540
Aceruloplasminemia	Hypochromic microcytic anemia, Apathy, Abnormal thalamic MRI signal intensity, Refractory anemia	ORPHA:48818
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Hyperparathyroidism, Transient Neonatal	Splenic cyst, Communicating hydrocephalus, Ventriculomegaly, Respiratory distress	OMIM:618188
Microphthalmia With Limb Anomalies	Short stature, Hypoplasia of the premaxilla, Micrognathia, Arrhinencephaly, Hydrocephalus, Hypopl...	ORPHA:1106
Dextrocardia	Abnormality of the spleen, Hydrocephalus	ORPHA:1666
Neurofibromatosis Type 1	Astrocytoma, Short stature, Macrocephaly, Hydrocephalus, Delayed puberty, Leukemia, Chronic myelo...	ORPHA:636
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus	OMIM:612284
Norrie Disease	Self-injurious behavior, Cachexia, Irritability, Muscle weakness, Failure to thrive, Delayed pube...	ORPHA:649
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia	OMIM:207731
Proteasome-Associated Autoinflammatory Syndrome 1	Conjunctivitis, Elevated circulating thyroid-stimulating hormone concentration, Short stature, Ep...	OMIM:256040
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Hydrocephalus	ORPHA:2736
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary arterial hypertension, Anterior pituitary hypoplasia, Aqueductal stenosis, Lateral vent...	OMIM:619534
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Oligospermia, Delayed puberty, Elevated circulating luteinizing hormone level, Sti...	ORPHA:95699
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	ORPHA:67045
Pallister-Hall Syndrome	Respiratory insufficiency, Laryngeal cleft, Gonadotropin deficiency, Short stature, Natal tooth, ...	ORPHA:672
Peters Plus Syndrome	Ventriculomegaly, Rhizomelia, Short stature, Anterior hypopituitarism, Micrognathia, Hydrocephalu...	ORPHA:709
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Hemolytic anemia, Central apnea	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Hemolytic anemia, Central apnea	ORPHA:529808
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Abnormal erythrocyte enzyme level, Eryt...	ORPHA:447
Fructose Intolerance, Hereditary	Coma, Failure to thrive, Lethargy	OMIM:229600
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Micrognathia, Hydrocephalus, Stillbirth, Intrauterine growth retardation	OMIM:208150
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus	OMIM:616546
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Hydrolethalus Syndrome 1	Micrognathia, Anencephaly, Arrhinencephaly, Agenesis of corpus callosum, Accessory spleen, Stillb...	OMIM:236680
Lymphangioleiomyomatosis	Pneumothorax, Hydrocephalus, Emphysema, Restrictive ventilatory defect, Dyspnea, Chylothorax, Cough	ORPHA:538
Proboscis Lateralis	Abnormal paranasal sinus morphology, Ventriculomegaly, Abnormal ethmoid bone morphology, Macrocep...	ORPHA:141099
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Rectal abscess, Myeloschisis, Dermal sinus tract	OMIM:600145
Fraser Syndrome 1	Dental malocclusion, Encephalocele, Myelomeningocele, Laryngeal web, Hydrocephalus, Laryngeal ste...	OMIM:219000
Tetrasomy 9P	Pulmonary arterial hypertension, Micrognathia, Arthritis, Macrocephaly, Hydrocephalus, Pericardit...	ORPHA:3310
Heterotaxy, Visceral, 1, X-Linked	Asplenia, Myelomeningocele, Aqueductal stenosis, Polysplenia, Hydrocephalus, Respiratory distress...	OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital	Pleural effusion, Hydrocephalus, Respiratory distress, Apnea	OMIM:261740
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Relative macrocephaly, Emphysema, Progressive ven...	ORPHA:500150
Focal Dermal Hypoplasia	Enamel hypoplasia, Dental malocclusion, Myelomeningocele, Short stature, Delayed eruption of teet...	OMIM:305600
Glycine Encephalopathy	Breathing dysregulation, Lethargy, Respiratory acidosis	ORPHA:407
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hypoplasia of the epiglottis, Abnormality of the larynx, Lateral ventricle dilatation	OMIM:263520
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Anemia	OMIM:175050
Visceral Steatosis, Congenital	Coma, Neonatal death, Lethargy	OMIM:228100
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus, Short stature, Micrognathia, Macrocephaly, Failure to thrive, Mic...	OMIM:619325
Nelson Syndrome	Oculomotor nerve palsy, Increased circulating prolactin concentration, Pituitary corticotropic ce...	ORPHA:199244
Baller-Gerold Syndrome	Short stature, Micrognathia, Hydrocephalus, Spina bifida occulta, Severe short stature, Severe in...	OMIM:218600
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary arterial hypertension, Anemia, Brain abscess, Exertional dyspnea, Hemothorax, Cerebral ...	OMIM:187300
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Hypoplasminogenemia	Hydrocephalus, Periodontitis, Cervicitis, Dandy-Walker malformation	ORPHA:722
Williams Syndrome	Dental malocclusion, Short stature, Micrognathia, Obesity, Spina bifida occulta, Hypoplasia of th...	ORPHA:904
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Short stature, Spina bifida, Micrognathia, Hydrocephalus, Stillbirth, ...	OMIM:304120
Scalp-Ear-Nipple Syndrome	Short stature, Mandibular prognathia, Pyelonephritis, Lateral ventricle dilatation	OMIM:181270
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Central sleep apnea, Thrombocytopenia, Cough, Thalamic hemorrhage	ORPHA:464321
Roberts-Sc Phocomelia Syndrome	Micrognathia, Hydrocephalus, Hyperplasia of the maxilla, Microcephaly, Accessory spleen, Severe i...	OMIM:268300
Loeys-Dietz Syndrome 1	Retrognathia, Eosinophilic infiltration of the esophagus, Micrognathia, Hydrocephalus, Malar flat...	OMIM:609192
Telangiectasia, Hereditary Hemorrhagic, Type 2	Pulmonary arterial hypertension, Anemia, Brain abscess, Cerebral arteriovenous malformation, Spon...	OMIM:600376
Limb Body Wall Complex	Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Spina bifida occulta	ORPHA:2369
Pineoblastoma	Reduced consciousness/confusion, Lethargy	ORPHA:251909
Genitopatellar Syndrome	Laryngomalacia, Delayed eruption of teeth, Micrognathia, Microcephaly, Agenesis of corpus callosu...	OMIM:606170
Tetraamelia Syndrome 1	Asplenia, Micrognathia, Hydrocephalus	OMIM:273395
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Hydrocephalus, Short stature	ORPHA:3042
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cerebral arteriovenous malformation, Spontaneous, recurrent epistaxis, Dyspnea	OMIM:610655
Split Cord Malformation	Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Distal lower limb muscle wea...	ORPHA:573278
Simpson-Golabi-Behmel Syndrome, Type 1	Dental malocclusion, Mandibular prognathia, Polysplenia, Macrocephaly, Hydrocephalus, Neonatal re...	OMIM:312870
Loeys-Dietz Syndrome 2	Retrognathia, Eosinophilic infiltration of the esophagus, Micrognathia, Hydrocephalus, Malar flat...	OMIM:610168
Townes-Brocks Syndrome 1	Small for gestational age, Holoprosencephaly, Hydrocephalus, Microcephaly	OMIM:107480
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Mandibular prognathia, Lateral ventricle dilatation, Primary microcephaly, Decreased ci...	ORPHA:261537
Exstrophy-Epispadias Complex	Spina bifida, Hydrocephalus, Microcephaly	ORPHA:322
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Abnormal jaw morphology, Mandibular prognathia, Lateral ventricle dilatation, Primary m...	ORPHA:261552
Craniofacial Microsomia	Micrognathia, Hydrocephalus, Hypoplasia of the maxilla, Maxillozygomatic hypoplasia, Malar flatte...	OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Hemolytic anemia	OMIM:175780

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 Rsph9

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rsph9.

No publications found that use IMPC mice or data for Rsph9.

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MGI Allele	Allele Type	Produced
Rsph9^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rsph9^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rsph9^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Rsph9^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Rsph9^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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Gene: Rsph9 MGI:1922814

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

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X-ray

Eye Morphology

Gross Pathology and Tissue Collection

X-ray

X-ray

Human diseases caused by Rsph9 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data