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

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	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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.

Adult LacZ

LacZ Images Section

20 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 Whole Body Dorso Ventral

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 (1013 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		Neonatal respiratory distress, Short stature, Chronic pulmonary obstruction, Decreased nasal nitr...	OMIM:612650
Primary Ciliary Dyskinesia		Neonatal respiratory distress, Productive cough, Asplenia, Hydrocephalus, Wheezing, Bronchiectasi...	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
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Schizophrenia 15	Hyperactivity	OMIM:613950
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Irritability, Apathy, Macrocephaly, Muscle weakness	ORPHA:99966
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Methylmalonic Acidemia With Homocystinuria	Skin rash, Microcephaly, Hydrocephalus, Lethargy, Failure to thrive	ORPHA:26
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Leptin Receptor Deficiency	Short stature, Decreased response to growth hormone stimulation test, Recurrent upper respiratory...	OMIM:614963
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Megalencephaly, Autosomal Dominant	Hydrocephalus, Macrocephaly	OMIM:155350
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis, Slender build, Ventriculomegaly, Macrocephaly	OMIM:611087
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:615938
Pelizaeus-Merzbacher Disease	Reduction of oligodendroglia, Short stature, Cerebral dysmyelination, Microcephaly, Sudanophilic ...	OMIM:312080
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Growth delay, Lethargy, Failure to thrive, Agenesis of corpus callosum	OMIM:274270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:615937
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal cerebrospinal fluid morphology, Decreased proportion of C...	ORPHA:217260
Inherited Creutzfeldt-Jakob Disease	Depression, Astrocytosis, Irritability, Bradykinesia, Apathy, Akinetic mutism, Emotional lability...	ORPHA:282166
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly	OMIM:618709
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Astrocytosis, Gliosis, Akinetic mutism, Incre...	ORPHA:204
Leukoencephalopathy With Vanishing White Matter 1	Cessation of head growth, Cerebral hypomyelination, CNS demyelination, Gliosis, Macrocephaly, Emo...	OMIM:603896
Mitochondrial Complex I Deficiency, Nuclear Type 5	Apnea, Microcephaly, Ophthalmoplegia, Respiratory insufficiency, Increased CSF lactate, Growth de...	OMIM:618226
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Lissencephaly 4	Short stature, Growth delay, Colpocephaly, Primary microcephaly, Agenesis of corpus callosum	OMIM:614019
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Behavioral Variant Of Frontotemporal Dementia	Emotional blunting, Astrocytosis, Irritability, Apathy, Abulia	ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Mild fetal ventriculomegaly, Neonatal death, Lethargy, Agenesis of cor...	OMIM:610498
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Apneic episodes precipitated by illness, fatigue, stress...	OMIM:312170
Masa Syndrome	Short stature, Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:303350
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Central Neurocytoma	Lethargy, Abnormal lateral ventricle morphology, Hydrocephalus, Depression	ORPHA:73256
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Partial absence of specific antibody response to Hae...	OMIM:301082
Alg13-Cdg	Abnormal lateral ventricle morphology, Poor head control, Decreased body weight	ORPHA:324422
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus, Rhizomelia, Thrombocytopenia	OMIM:166990
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Delayed CNS myelination, Microcephaly, Hydrocephalus, Macrocephaly	OMIM:300884
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Activated Pi3K-Delta Syndrome	Pneumonia, Microcephaly, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Arth...	ORPHA:397596
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Gaba-Transaminase Deficiency	Lethargy, Retrognathia, Agenesis of corpus callosum, Leukodystrophy	OMIM:613163
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas...	OMIM:612444
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Distal muscle weakness, Muscle weakness, Increased CSF lactate	OMIM:613710
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent uppe...	ORPHA:277
2,4-Dienoyl-Coa Reductase Deficiency	Delayed CNS myelination, Poor head control, Microcephaly, Hydrocephalus, Ophthalmoplegia, Increas...	OMIM:616034
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Microcephaly, Postnatal growth retardation, Hydrocephalus, Delay...	ORPHA:2169
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Pontocerebellar Hypoplasia, Type 15	Delayed CNS myelination, Chronic neutropenia, Hydrocephalus, Partial agenesis of the corpus callo...	OMIM:619302
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Micrognathia	ORPHA:1538
Familial Infantile Bilateral Striatal Necrosis	Astrocytosis, Upper limb muscle weakness, Basal ganglia gliosis, Failure to thrive, Lower limb mu...	ORPHA:225154
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna...	ORPHA:54595
Central Precocious Puberty In Male	Astrocytoma, Acne, Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypotha...	ORPHA:649929
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:611808
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Severe Canavan Disease	Irritability, Poor head control, Lethargy, Macrocephaly	ORPHA:314911
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly, Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:26792
Glut1 Deficiency Syndrome 1	Hypoglycorrhachia, Lethargy, Paroxysmal lethargy, Secondary microcephaly	OMIM:606777
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Microcephaly, Supernumerary tooth, Abnormal pituitary gland morphol...	ORPHA:314621
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Partial agenesis of the corpus callosum, Abnormal myelination, Agenesis of corpus call...	ORPHA:85179
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
Pontocerebellar Hypoplasia, Type 6	Poor head control, Apnea, Microcephaly, Increased CSF lactate, Lethargy, Failure to thrive, Progr...	OMIM:611523
Mitochondrial Complex I Deficiency, Nuclear Type 4	Apnea, Ophthalmoplegia, Increased CSF lactate, Leukodystrophy, Macrocephaly, Lethargy	OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 6	Apnea, Respiratory insufficiency, Lethargy, Failure to thrive, Ventriculomegaly	OMIM:618228
Aicardi-Goutieres Syndrome 4	Pancytopenia, Thrombocytopenia, Hydrocephalus, Splenomegaly, Respiratory insufficiency, Hepatospl...	OMIM:610333
Ciliary Dyskinesia, Primary, 12	Neonatal respiratory distress, Short stature, Chronic pulmonary obstruction, Decreased nasal nitr...	OMIM:612650
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Gro...	OMIM:613561
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis, Gliosis	OMIM:613002
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Thromb...	ORPHA:47
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Pontocerebellar Hypoplasia, Type 1A	Microcephaly, Respiratory insufficiency, Lateral ventricle dilatation, Muscle weakness, Intercost...	OMIM:607596
Amoebiasis Due To Free-Living Amoebae	Increased CSF protein concentration, Sinusitis, Pneumonia, Abnormal cerebrospinal fluid morpholog...	ORPHA:68
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Ciliary Dyskinesia, Primary, 14	Neonatal respiratory distress, Absent inner dynein arms, Wheezing, Abnormal axonemal organization...	OMIM:613807
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Apathy, Astrocytosis	OMIM:600795
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:615294
Immunodeficiency 32B	Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Ciliary Dyskinesia, Primary, 32	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:616481
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Lateral ventricle dilatation, Hypothalamic atrophy, Emotional lability, Lowe...	ORPHA:2822
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Abnormal erythrocyte morphology, Hypoglycorrhachia, Lethargy, Progressive microcep...	ORPHA:71277
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive, Macrocephaly	ORPHA:250994
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Pallister-Hall-Like Syndrome	Occipital encephalocele, Glioma, Short stature, Microcephaly, Micrognathia, Hydrocephalus, Hypoth...	OMIM:241800
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Bronchiectasis, Hepa...	ORPHA:33110
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Small for gestational age, Lethargy	OMIM:617065
Ciliary Dyskinesia, Primary, 16	Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot...	OMIM:614017
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Muscle weakness	OMIM:618302
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Ciliary Dyskinesia, Primary, 27	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator...	OMIM:615504
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Band Heterotopia	Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Agenesis of corpus callosum, Ventricul...	OMIM:600348
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis	ORPHA:1008
Alexander Disease	Hydrocephalus, Progressive macrocephaly, Apathy, Diffuse demyelination of the cerebral white matt...	OMIM:203450
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Small for gestational age, Microcephaly, Cerebellar gliosis, Parti...	ORPHA:79243
Dystonia 30	Bipolar affective disorder, Hypothalamic hamartoma	OMIM:619291
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Ventriculomegaly, Increased CSF lactate, Gliosis, Lethargy, Basal ganglia g...	OMIM:604377
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Hyperlysinemia, Type I	Hyperactivity	OMIM:238700
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Severe demy...	ORPHA:488635
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior	OMIM:248510
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Aspleni...	OMIM:244400
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Pneumonia, Micrognathia, Bronchiectasis, Increased circulating IgM leve...	OMIM:242860
Cach Syndrome	Microcephaly, T2 hypointense thalamus, Dysmyelinating leukodystrophy, Progressive macrocephaly, H...	ORPHA:135
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Pyruvate Dehydrogenase Deficiency	Microcephaly, Dyspnea, Tachypnea, Growth delay, Lethargy, Intrauterine growth retardation, Ventri...	ORPHA:765
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab...	OMIM:618063
Dihydrolipoamide Dehydrogenase Deficiency	Increased CSF valine concentration, Microcephaly, Increased CSF isoleucine concentration, Increas...	OMIM:246900
Developmental And Epileptic Encephalopathy 92	Lethargy, Secondary microcephaly	OMIM:617829
Ciliary Dyskinesia, Primary, 6	Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci...	OMIM:610852
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Ciliary Dyskinesia, Primary, 50	Coiled sperm flagella, Short sperm flagella, Chronic sinusitis, Absent inner dynein arms	OMIM:620356
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Thrombocytopenia, Recurrent pneumon...	ORPHA:47612
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis...	OMIM:261600
Ciliary Dyskinesia, Primary, 17	Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent...	OMIM:614679
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Macrocephaly	ORPHA:2185
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Dyspnea, Asthma, Chronic pulmonary ...	ORPHA:1163
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Microcephaly, Thrombocytopenia, Respiratory insufficiency, L...	OMIM:617397
Congenital Toxoplasmosis	Ventriculomegaly, Failure to thrive in infancy, Microcephaly, Thrombocytopenia, Hydrocephalus, In...	ORPHA:858
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Cryptorchidism, Agenesis of corpus callosum, Macrocephaly	OMIM:618929
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Delayed CNS myelination, Short stature, Demyelinating peripheral neuropathy, Microcephaly, Microg...	OMIM:619833
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab...	OMIM:618300
Temple Syndrome	Relative macrocephaly, Small for gestational age, Decreased response to growth hormone stimulatio...	ORPHA:254516
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Otitis media, Macrocephaly, Macroorchidism, Chronic otitis media	ORPHA:908
Hemidystonia-Hemiatrophy Syndrome	Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology, Rhizomelic leg s...	ORPHA:306741
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Ciliary Dyskinesia, Primary, 30	Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitr...	OMIM:616037
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Asplenia, Hydrocephalus, Wheezing, Bronchiectasi...	ORPHA:244
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Irritability, Failure to thrive, Agenesis of corpus callosum, Lethargy	OMIM:250620
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Delayed CNS myelination, Microcephaly, Irritability, Lethargy	OMIM:617105
Hereditary Central Diabetes Insipidus	Growth delay, Irritability, Lethargy, Weight loss	ORPHA:30925
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Alexander Disease Type I	Cachexia, Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Failur...	ORPHA:363717
Frontal Encephalocele	Encephalocele, Spina bifida, Hydrocephalus, Leukodystrophy, Macrocephaly	ORPHA:1931
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Microcephaly	OMIM:619470
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Respiratory insufficiency	OMIM:618224
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk...	OMIM:242670
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Wheezing, Abnormal axonemal organization of respiratory motile cil...	OMIM:613808
Martsolf Syndrome 2	Lateral ventricle dilatation, Decreased body weight, Short stature, Microcephaly	OMIM:619420
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil...	OMIM:606763
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation, Muscle weakness, Depression	OMIM:615889
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Cyclic Vomiting Syndrome	Growth delay, Lethargy, Muscle weakness, Microcephaly	OMIM:500007
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Neonatal asphyxia, Lateral ventricle dilatation, Depression	ORPHA:306669
Mucus Inspissation Of Respiratory Tract	Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis	OMIM:253240
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Secondary microcephaly, Short stature, Macrocephaly	OMIM:618174
Riddle Syndrome	Short stature, Pneumonia, Microcephaly, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Rest...	ORPHA:420741
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Poor head control, Tachypnea, Respiratory insufficiency, Respiratory failur...	OMIM:614299
Lethal Infantile Mitochondrial Myopathy	Lethargy, Neonatal respiratory distress, Progressive external ophthalmoplegia	ORPHA:254857
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:609757
Ciliary Dyskinesia, Primary, 10	Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary...	OMIM:612518
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Microcephaly	OMIM:304100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Irritability, Decreased CSF homovanillic acid concentration, Lethargy	ORPHA:101150
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Gómez-López-Hernández Syndrome	Hydrocephalus, Short stature	ORPHA:1532
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Skin rash, Ophthalmoplegia, Irritability, Gliosis, Lethargy, Ventriculomegaly	OMIM:618321
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Gliosis, Peripheral demyelination, Euphoria	OMIM:221770
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Irritability, Growth ...	ORPHA:79242
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Delayed CNS myelination, Hydrocephalus, Secondary microcephaly, Microcephaly	OMIM:615599
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Ophthalmoplegia	OMIM:618683
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Microcephaly	ORPHA:1528
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Micrognathia, Short stature, Macrocephaly	ORPHA:1516
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Otitis media	OMIM:300455
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	External ophthalmoplegia, Tachypnea, Increased CSF lactate, Respiratory failure, Muscle weakness,...	OMIM:615838
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Decreased circulat...	OMIM:102700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Proximal muscle weakness, Fatigable weakness, Fatigable weakness of neck muscles, Macro...	ORPHA:42
Temple Syndrome	Relative macrocephaly, Small for gestational age, Short stature, Micrognathia, Overweight, Crypto...	OMIM:616222
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Failure to thrive in infancy, Micrognathia, Delayed myelination, Lateral ventricle dilatation, Pr...	ORPHA:284417
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Micrognathia, Primary microcephaly	OMIM:618266
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function, Pure re...	OMIM:613179
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Delayed CNS myelination, Respiratory insufficiency, Microcephaly	OMIM:617668
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Generalized muscle weakness, Increased body weight	ORPHA:276608
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Cryptorchidism, Tachypnea, Growth delay, Normochromic anemia, Lethargy, Neutropenia...	OMIM:614857
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Microcephaly, Cryptorchidism, A...	OMIM:606593
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Thrombocytopenia, Splenomegaly, Neutropenia, Lethargy, Failure to thrive, P...	ORPHA:79312
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Muscle weakness, Increased...	OMIM:605711
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Lethargy, Failure to thrive, Respiratory insufficiency	ORPHA:28
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Abnormality of the temporomandibular joint, Facial palsy, Intercostal ...	ORPHA:258
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Short stature, Facial palsy, Carious teeth, Mandibu...	ORPHA:53
Cyclic Neutropenia	Pharyngitis, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritoni...	ORPHA:2686
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Microcephaly, Emotional lability, Failure to thrive, Lethargy	ORPHA:927
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Ophthalmoplegia, Colpocephaly, Delayed CNS myelination, Microcephaly	OMIM:618731
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Herpes simplex encephalitis	OMIM:617900
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Secondary microcephaly, Delayed myelination	ORPHA:397951
Alobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Microcephaly...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Microcephaly...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Microcephaly...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Microcephaly...	ORPHA:220386
D-2-Hydroxyglutaric Aciduria 1	Delayed CNS myelination, Apnea, Micrognathia, Subependymal cysts, Lateral ventricle dilatation, M...	OMIM:600721
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Microcephaly, Hydrocephalus, Lethargy, Failure to thrive, Lower limb muscle weakness, Vent...	ORPHA:395
Tubulinopathy-Associated Dysgyria	Macrocephaly, Abnormal thalamus morphology, Ventriculomegaly, Microcephaly	ORPHA:467166
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res...	OMIM:619057
Krabbe Disease	Autoimmune thrombocytopenia, Hydrocephalus, CNS demyelination, Failure to thrive, Increased CSF p...	OMIM:245200
Idiopathic Intracranial Hypertension	Lethargy, Abnormal emotion, Obesity, Depression	ORPHA:238624
Central Diabetes Insipidus	Depression, Failure to thrive, Lethargy, Weight loss	ORPHA:178029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Poor head control, Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation, Agenesis ...	OMIM:613153
Transcobalamin Ii Deficiency	Failure to thrive, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decr...	OMIM:275350
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter...	OMIM:307200
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro...	OMIM:256850
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Quadriceps muscle weakness, Hydrocephalus, Distal low...	ORPHA:99947
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Anemia, Growth delay, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia	ORPHA:289916
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Hypoplasia of the maxilla, Hydrocephalus, Macrocephaly, Malar flattening, Agenesis...	OMIM:109120
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Delayed CNS myelination, Failure to thrive, Secondary microcephaly, Decreased thalamic volume	OMIM:613668
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cerebrospinal fluid rhinorrhoea, Cholecystitis, De...	ORPHA:183675
Isolated Atp Synthase Deficiency	Respiratory distress, Short stature, Microcephaly, Ophthalmoplegia, Lethargy, Muscle weakness	ORPHA:254913
Propionic Acidemia	Pancytopenia, Apnea, Eczema, Short stature, Thrombocytopenia, Tachypnea, Neutropenia, Lethargy, F...	OMIM:606054
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Fried Syndrome	Hydrocephalus	ORPHA:85335
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Abnormal myelination	ORPHA:401820
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Abnormal myelination	ORPHA:352682
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Sinusitis, Short stature, Microcephaly, Decreased c...	OMIM:208900
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Abnormal myelination	ORPHA:401830
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Short stature, Splenomegaly, Hydrocephalus, Macrocephaly, Cough, Chronic otitis...	ORPHA:579
Biemond Syndrome Type 2	Hydrocephalus, Short stature, Obesity, Delayed puberty	ORPHA:141333
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pharyngitis, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypn...	ORPHA:36238
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Bronchial breath sound, ...	ORPHA:449280
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Ogden Syndrome	Microretrognathia, Postnatal growth retardation, Cryptorchidism, Lethargy, Ventriculomegaly	ORPHA:276432
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Tay-Sachs Disease	Hip flexor weakness, Distal muscle weakness, Progressive macrocephaly, Abnormal thalamic MRI sign...	ORPHA:845
Susac Syndrome	Lethargy, Apathy, Abnormal emotion, Muscle weakness	ORPHA:838
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Micrognathia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Failure to thrive	OMIM:237310
Hemochromatosis, Type 2A	Splenomegaly, Azoospermia, Lethargy, Arthritis	OMIM:602390
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Macrocephaly	ORPHA:380
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Decreased circulating IgG level, Small for gestational age, Rhizomelia, Cry...	OMIM:607143
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Short stature, Microcephaly, Cryptorchidism, Lateral ventricle dilatat...	OMIM:619847
Alg2-Cdg	Cerebral hypomyelination, Lateral ventricle dilatation, Microcephaly	ORPHA:79326
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Progressive macrocephaly, Leukemia, Ventriculomegaly	OMIM:602501
Hyperphenylalaninemia, Bh4-Deficient, B	Irritability, Increased CSF phenylalanine concentration, Lethargy	OMIM:233910
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ...	OMIM:310400
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Microcephaly, Thrombocytopenia, Hydrocephalus, Splenomega...	OMIM:614576
Carnitine Deficiency, Systemic Primary	Respiratory distress, Proximal muscle weakness, Lethargy, Failure to thrive, Muscle weakness	OMIM:212140
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Glioma, Dysgammaglobulinemia, Short stature, Malar promin...	OMIM:251260
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Retr...	OMIM:620157
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Microcephaly, Delayed myelination, Hydrocele testis, Growth delay, Lateral...	ORPHA:85290
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Diffuse demyelination of the cerebral white matter, Microcephaly	ORPHA:77299
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Proximal muscle weakness, Hydroc...	ORPHA:370959
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Short stature, Muscle weakness	OMIM:618120
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres...	ORPHA:1959
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Microcephaly, Micrognathia, Recurrent upper ...	ORPHA:3078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hogue-Janssen Syndrome 2	Delayed CNS myelination, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Microcephaly	OMIM:610006
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Lethargy, Failure to thrive, Megaloblastic anemia	OMIM:236270
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Delayed CNS myelination, Tubulointerstitial nephritis, Leukopenia, Neutrope...	OMIM:251000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Muscle weakness, Large for gestational age	ORPHA:276580
Isolated Complex I Deficiency	Poor head control, Microcephaly, Respiratory insufficiency, Increased CSF lactate, Muscle weaknes...	ORPHA:2609
Adams-Oliver Syndrome 2	Micrognathia, Microcephaly, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly	OMIM:614219
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Asthm...	ORPHA:183
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename...	ORPHA:1452
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Arthritis, Panniculi...	OMIM:617591
Developmental And Epileptic Encephalopathy 31B	Poor head control, Irritability, Colpocephaly, Secondary microcephaly, Failure to thrive, Agenesi...	OMIM:620352
Dihydropyrimidinase Deficiency	Growth delay, Lethargy	OMIM:222748
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Short stature, Obesity	ORPHA:2183
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Hydranencephaly	Postnatal growth retardation, Thalamic edema, Lethargy, Primary microcephaly, Intrauterine growth...	ORPHA:2177
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Failure to thrive, Microcephaly	ORPHA:2394
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Microcephaly, Splenomegaly, Astrocytosis, Bradykinesia, Abnormal myelination, Polycythemia	ORPHA:309854
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Combined Oxidative Phosphorylation Deficiency 11	Delayed myelination, CNS hypomyelination, Increased CSF lactate, Respiratory failure, Stillbirth,...	OMIM:614922
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Microcephaly, Pulmonary embolism, Megaloblastic anemia, Hydrocephalus, Seve...	ORPHA:79282
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Micrognathia, Microcephaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dand...	OMIM:225790
Meningococcal Meningitis	Increased CSF protein concentration, Neonatal respiratory distress, Skin rash, CSF pleocytosis, I...	ORPHA:33475
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Micrognathia, Postnatal growth retardation, Partial agenesis of the corpus callosum, Lateral vent...	ORPHA:300570
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Muscle weakness	ORPHA:79230
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Short stature, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cou...	ORPHA:228119
Classic Galactosemia	Abnormal erythrocyte enzyme level, Cryptorchidism, Depression, Delayed puberty, Lethargy	ORPHA:79239
Progressive Non-Fluent Aphasia	Depression, Astrocytosis	ORPHA:100070
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Delayed CNS myelination, M...	OMIM:619517
1Q44 Microdeletion Syndrome	Short stature, Micrognathia, Microcephaly, Hydrocephalus, Growth delay, Biparietal narrowing, Age...	ORPHA:238769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Facial palsy, Microcephaly	OMIM:613155
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Respiratory failure, Pancreatitis	OMIM:619386
Glutaric Acidemia I	Hydrocephalus, Delayed myelination, Symmetrical progressive peripheral demyelination, Lateral ven...	OMIM:231670
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Nasu-Hakola Disease	Irritability, Hydrocephalus, Ventriculomegaly, Acute leukemia	ORPHA:2770
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Hydrocephalus, Macrocephaly, Dandy-Walker malformation	OMIM:220220
Craniofacial Dyssynostosis With Short Stature	Short stature, Cryptorchidism, Hydrocephalus, Malar flattening, Agenesis of corpus callosum, Vent...	OMIM:218350
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Macroc...	ORPHA:93274
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Microcephaly, Hydrocephalus, Disproportionate short-trunk short statur...	OMIM:613330
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Episodic tachypnea, Micrognathia, Hydrocephalus, Retrognathia, Apneic episodes in infancy, Dandy-...	ORPHA:163961
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Macrocephaly	OMIM:615191
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Eczema, Microcephaly, Recurrent pneumonia, Lateral ventricle dilatation...	OMIM:617751
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Failure to thrive in infancy, Lethargy	OMIM:619064
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Impaired T cell function, Splenomegaly, Irritability, Emotional lability, Failure ...	OMIM:201100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p...	ORPHA:83471
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Infantile Sialic Acid Storage Disease	Splenomegaly, Hydrocephalus, Failure to thrive, Vacuolated lymphocytes	OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Poor head control, Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus,...	OMIM:615249
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Apnea, Microcephaly, Respiratory insufficiency, Respiratory failur...	OMIM:608836
Sim1-Related Prader-Willi-Like Syndrome	Cryptorchidism, Obesity, Abdominal obesity, Small pituitary gland, Lethargy, Failure to thrive, D...	ORPHA:398079
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Demyelinating peripheral neuropathy, Carious teeth, Splenomega...	ORPHA:90324
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Small for gestational age, Large for gestational age	ORPHA:324575
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Disproportionate short-tru...	ORPHA:583
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Short stature, Microcephaly	OMIM:300558
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Neutropenia, ...	OMIM:609053
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Macrocephaly	ORPHA:83473
Crigler-Najjar Syndrome	Lethargy, Infectious encephalitis, Ophthalmoparesis	ORPHA:205
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious...	ORPHA:2552
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Dyspnea, Thrombocytopenia, B...	ORPHA:169105
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Recurrent pharyngitis, Myocarditis, Respiratory insufficiency...	ORPHA:3099
Medulloblastoma	Total ophthalmoplegia, Hydrocephalus, Progressive macrocephaly, Irritability, Lethargy	ORPHA:616
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Lethargy, Pancreatiti...	ORPHA:27
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Short stature, Facial palsy, Poor head control, Micro...	OMIM:259720
Intellectual Developmental Disorder, Autosomal Dominant 56	Delayed CNS myelination, Delayed myelination, Bradykinesia, Lateral ventricle dilatation, Seconda...	OMIM:617854
Thanatophoric Dysplasia	Hydrocephalus, Respiratory insufficiency, Disproportionate short-limb short stature, Macrocephaly...	ORPHA:2655
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Irritability, Failure to thrive, Short stature, Lethargy	ORPHA:2089
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation	OMIM:300982
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Apnea, CNS hypomyelination, Subependymal cysts, Lateral ventricle ...	OMIM:610015
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Micrognathia, Respiratory insufficiency due to muscle weakness, Lateral ventricle ...	OMIM:618291
Benign Samaritan Congenital Myopathy	Lethargy, Abnormal respiratory system physiology	ORPHA:324581
Yellow Nail Syndrome	Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Cough, Pulmonary arterial hypertension	ORPHA:662
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology, Microcephaly	ORPHA:398189
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Osteomyelitis, Facial palsy, Carious teeth, Thrombocytopenia, Hydrocephalus, Spleno...	OMIM:259700
Granulomatosis With Polyangiitis	Subglottic stenosis, Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Respiratory insuff...	OMIM:608710
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Delayed eruption of primary teeth, Microcephaly, Micrognathia, Crypt...	OMIM:609029
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Delayed myelination, Irritability, Lateral ventricle dilatation, Secondary microcephaly, Akinetic...	ORPHA:2148
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Poor head control, Small for gestational age, Short stature, Secondary microcephaly, Abnormal mye...	ORPHA:289266
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Eczema, Abnormal immunoglobulin level, Increased T cell count, I...	ORPHA:98813
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Cryptorchidism, Increased body weight, Abdominal obesity, Small pituitary gland, L...	ORPHA:398069
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Obesity, Macrocephaly, M...	ORPHA:2180
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Cryptorchidism, Hydrocephalus, Obesity, Laryngomalacia, Malar flattening	ORPHA:171839
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Macrocephaly	OMIM:307000
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Micrognathia, Microcephaly, Holoprosencephaly, Hydranencephaly, Intrauterine growth retardation, ...	ORPHA:2570
Optic Pathway Glioma	Growth delay, Hydrocephalus, Ophthalmoplegia, Fatigable weakness	ORPHA:2086
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Hydrocephalus, Growth delay, Colpocephaly, Retrognathia, Agenesis of corpus callosu...	OMIM:620156
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Pelizaeus-Merzbacher Disease, Connatal Form	Poor head control, Short stature, Abnormal morphology of musculature of pharynx, Respiratory fail...	ORPHA:280210
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Macrocephaly	OMIM:300886
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Microcephaly, Hydrocephalus, Growth delay, Decreased...	OMIM:614886
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Failure to thrive, Lethargy	OMIM:238970
Igg4-Related Pachymeningitis	Increased CSF protein concentration, Sinusitis, Eosinophilia, Increased circulating IgG4 level, A...	ORPHA:449427
Congenital Muscular Dystrophy, Fukuyama Type	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	ORPHA:272
Mitochondrial Complex I Deficiency, Nuclear Type 1	Poor head control, Apnea, Microcephaly, Splenomegaly, Progressive macrocephaly, Respiratory insuf...	OMIM:252010
Bilateral Generalized Polymicrogyria	Total ophthalmoplegia, Short stature, Microcephaly, Growth delay, Lateral ventricle dilatation	ORPHA:208447
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Large for gestational age	ORPHA:276556
Insulinoma	Lethargy, Pituitary prolactin cell adenoma, Generalized muscle weakness, Increased body weight	ORPHA:97279
Whim Syndrome	Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respirato...	ORPHA:51636
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Microcephaly, Hydrocephalus, Neutropenia, Lethargy, Failure to thrive, Thro...	OMIM:277400
Monosomy 18Q	Mandibular prognathia, Astrocytoma, Short stature, Microcephaly, Bilateral cryptorchidism, Hydroc...	ORPHA:1600
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Increased CSF lactate, Lethargy, Decreased CSF copper concent...	OMIM:620306
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Microcephaly, Tachypnea, Muscle weakness, Respiratory arrest, Lethargy	OMIM:201475
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Chronic sinusitis, Bronchiectasis	OMIM:604571
Bresek Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth re...	ORPHA:85284
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Large for gestational age	ORPHA:276575
Whipple Disease	Myositis, Pericarditis, Cachexia, Myocarditis, Hydrocephalus, Splenomegaly, Uveitis, Respiratory ...	ORPHA:3452
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Short stature, Micrognathia, Microcephaly, Hydrocephalus, M...	ORPHA:1908
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Limb muscle weakness, Agenesi...	OMIM:207950
Isovaleric Acidemia	Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia	OMIM:243500
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Trichinellosis	Skin rash, Facial palsy, Abnormal cerebrospinal fluid morphology, Trismus, Ophthalmoplegia, Incre...	ORPHA:863
Familial Acute Necrotizing Encephalopathy	Generalized muscle weakness, Gliosis, Abnormal thalamus morphology, Increased CSF protein concent...	ORPHA:88619
Pontocerebellar Hypoplasia, Type 13	Microcephaly, Asthma, Lateral ventricle dilatation, Pleural effusion, Failure to thrive, Dandy-Wa...	OMIM:618606
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Microcephaly	OMIM:618890
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Typhoid	Skin rash, Epistaxis, Splenomegaly, Cough, Lethargy, Infectious encephalitis	ORPHA:99745
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Small for gestational age, Short stature, Megaloblastic anemia, Thromboc...	OMIM:277380
Basal Ganglia Calcification, Idiopathic, 5	Apathy, Thalamic calcification, Depression	OMIM:615483
Ciliary Dyskinesia, Primary, 11	Neonatal respiratory distress, Short stature, Decreased nasal nitric oxide, Bronchiectasis, Abnor...	OMIM:612649
Griscelli Syndrome	Encephalocele, Short stature, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Hepatitis,...	ORPHA:381
Ciliary Dyskinesia, Primary, 25	Neonatal respiratory distress, Microcephaly, Productive cough, Chronic pulmonary obstruction, Rec...	OMIM:615482
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly	ORPHA:300573
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Carnitine-Acylcarnitine Translocase Deficiency	Sudden episodic apnea, Microcephaly, Respiratory insufficiency, Irritability, Lethargy, Muscle we...	ORPHA:159
Spondyloenchondrodysplasia	Delayed eruption of teeth, Abnormal lateral ventricle morphology, Pancytopenia, Skin rash, Decrea...	ORPHA:1855
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Microcephaly, Micrognathia, Cryptorchidis...	ORPHA:96170
Coach Syndrome 2	Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum	OMIM:619111
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Progressive distal muscle weakness, Generalized muscle weakness, Re...	ORPHA:746
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Micrognathia, Cryptorchidism, Splenomegaly, Hepatosplenomegaly, Colpoc...	OMIM:614866
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per...	ORPHA:727
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Hydrocephalus, Malar flattening, Failure to thrive, Agenesis of corpus callosum, In...	OMIM:612940
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Desmosterolosis	Severe short stature, Microcephaly, Micrognathia, Splenomegaly, Hydrocephalus, Retrognathia, Grow...	ORPHA:35107
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, Respiratory insufficiency, Micrognathia	ORPHA:1895
Tenorio Syndrome	Mandibular prognathia, Apnea, Hydrocephalus, Recurrent pneumonia, Keratoconjunctivitis sicca, Rec...	OMIM:616260
Citrullinemia Type I	Lethargy, Failure to thrive, Tachypnea	ORPHA:247525
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Short stature	OMIM:618330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Lateral ventricle dilatation, Microcephaly	OMIM:615716
Riboflavin Deficiency	Lethargy	OMIM:615026
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:618736
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Small for gestational age, Short stature, Microcephaly, Micrognathia, Cryptorch...	OMIM:257300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Failure to thrive, Short stature, Microcephaly, Overweight, Cryptorchidism...	ORPHA:500055
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Astrocytosis, Gliosis, Tracheomalacia, Failure to thrive, Increased CSF protein ...	OMIM:203700
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Lacrimal Duct Defect	Sinusitis, Conjunctivitis	OMIM:149700
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:616355
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Agenesis of...	OMIM:615219
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Cryptorchidism, Hydrocephalus, Short stature	ORPHA:2701
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Gr...	ORPHA:99832
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen...	OMIM:607594
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Diminished motivation, Distal muscle weakness, F...	ORPHA:2356
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Weight loss, Arthritis, Apathy, Lethargy, Testicular atrophy, Muscle weakness	ORPHA:465508
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Retrognathia, Secondary microcephaly, Intrauterine growth retardat...	OMIM:612938
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Short stature, Micrognathia, Hydrocephalus, Tubulointerstitial nephritis, ...	ORPHA:459061
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Short stature, Microcephaly, Postnatal...	ORPHA:168577
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel...	ORPHA:1946
Multifocal Atrial Tachycardia	Dyspnea, Cryptorchidism, Tachypnea, Lethargy	ORPHA:3282
Supranuclear Palsy, Progressive, 1	Astrocytosis, Bradykinesia, Irritability, Apathy, Gliosis	OMIM:601104
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adrenocorticotropic hormon...	ORPHA:199299
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Irritability, Failure to thrive, Lethargy	OMIM:237300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Splenomegaly, Hydrocephalus, Obesity, Ventriculomegaly	OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Poor head control, Hydrocephalus, Respiratory failure, Leukodystrophy, Macrocephaly, Ventriculome...	OMIM:616538
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Episodic t...	ORPHA:26793
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Generalized muscle weakness, Respiratory insufficiency, Respiratory fa...	OMIM:609015
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, O...	ORPHA:254892
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Cough, Nephritis, Infecti...	ORPHA:73263
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Persistence of ...	OMIM:259710
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age, Elevated hemoglobin A1c, Microcephaly	OMIM:619278
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Failure to thrive in infancy, Microcephaly, Micrognathia,...	OMIM:620155
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Retrognathia, Decreased thalamic volume, Microcephaly	OMIM:619072
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Skin rash, Maculopapular exanthema, Aplastic anemia, Thrombocytop...	ORPHA:398124
Ebola Hemorrhagic Fever	Pharyngitis, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increas...	ORPHA:319218
Scrub Typhus	Anterior uveitis, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Restrictive ventilatory defect, ...	ORPHA:83317
Desmosterolosis	Relative macrocephaly, Rhizomelia, Microcephaly, Micrognathia, Hydrocephalus, Partial agenesis of...	OMIM:602398
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Malar flattening, Inflammato...	ORPHA:93262
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hydrocephalus, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, ...	OMIM:612301
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Lethargy, Breathing dysregulation	OMIM:618232
Oculoskeletodental Syndrome	Short stature, Dysplastic corpus callosum, Enamel hypoplasia, Retrognathia, Abnormal thalamus mor...	ORPHA:557003
Chronic Granulomatous Disease	Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Chronic pulmonary obs...	ORPHA:379
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Growth delay, Neutropenia, Stomatitis, Intrauterine growth retar...	ORPHA:79284
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Dyspnea, Asthma, Wheezing, Leukocytosis, Bronchiectasis, Chronic cough, Cough, Recurren...	OMIM:620233
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Small for gestational age, Short stature, Cryptorchidism, Growth d...	ORPHA:97362
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Lethargy, Muscle weakness, Cardiorespiratory arrest	OMIM:212138
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Pituitary go...	ORPHA:91348
Alexander Disease	Facial palsy, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Depression, Agenesis...	ORPHA:58
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Hydrocephalus, Myelomeningocele, Respiratory insufficiency	ORPHA:1914
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy	OMIM:274400
B4Galt1-Cdg	Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly, Hydrocephalus, Dan...	ORPHA:79332
Leigh Syndrome	Distal muscle weakness, Eczema, Ophthalmoplegia, Abnormal thalamic MRI signal intensity, Increase...	ORPHA:506
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Short stature, Overweight, Hydrocephalus, Lateral ventricle dilatation, Leukod...	OMIM:619575
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Macrocephaly, Intrauterine growth retardation	OMIM:300863
Walker-Warburg Syndrome	Ventriculomegaly, Microcephaly, Cryptorchidism, Hydrocephalus, Muscle weakness, Macrocephaly, Age...	ORPHA:899
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Depression	ORPHA:275543
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Short stature, Micrognathia, Hydrocephalus, Abnormality of the sphenoid sinus, Granulo...	ORPHA:363700
Ciliary Dyskinesia, Primary, 26	Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o...	OMIM:615500
Encephalitis Lethargica	Pharyngitis, Upper limb muscle weakness, Increased circulating antibody level, Lethargy, Increase...	ORPHA:83600
Hemangioblastoma	Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness	ORPHA:252054
Congenital Disorder Of Deglycosylation 2	Micrognathia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Macrocephaly, Vent...	OMIM:619775
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal natural killer cell physiolo...	OMIM:613101
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Apnea, Microcephaly, Leukocytosis, Tachypnea, Weight loss, Leukopenia, Lethar...	ORPHA:20
Icf Syndrome	Communicating hydrocephalus, Short stature, Abnormality of neutrophils, Micrognathia, Decreased c...	ORPHA:2268
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal...	OMIM:620113
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Delayed CNS myelination, Short stature, Decreased response to growth hormone stimulation test, Mi...	OMIM:617260
Necrotizing Enterocolitis	Small for gestational age, Apnea, Leukocytosis, Peritonitis, Neutropenia, Lethargy, Thrombocytopenia	ORPHA:391673
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Pericarditis, Delayed CNS myelination, Chilblains, Microcep...	OMIM:619487
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Failure to thriv...	ORPHA:238468
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Irritability, Abnormal t...	ORPHA:449291
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion, Ophthalmoparesis, Depression	ORPHA:254881
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Citrullinemia Type Ii	Decreased body mass index, Mania, Irritability, Lethargy, Delayed menarche, Pancreatitis	ORPHA:247585
Ciliary Dyskinesia, Primary, 28	Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit...	OMIM:615505
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, Intrauterine ...	OMIM:220210
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Prostatitis, Chro...	ORPHA:900
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein arms, Decreased nasa...	OMIM:614874
Cole-Carpenter Syndrome 2	Microretrognathia, Short stature, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Dent...	OMIM:616294
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Metatropic Dysplasia	Hydrocephalus, Severe short stature	ORPHA:2635
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Brain abscess, Severe short stature, Rhizomelia, Hydrocephal...	OMIM:616482
Congenital Myopathy 22A, Classic	Micrognathia, External ophthalmoplegia, Gowers sign, Ophthalmoplegia, Generalized muscle weakness...	OMIM:620351
Combined Oxidative Phosphorylation Defect Type 39	Poor head control, Microcephaly, Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatat...	ORPHA:565624
Multiple Sulfatase Deficiency	Short stature, Splenomegaly, Hydrocephalus, CNS demyelination, Increased CSF protein concentratio...	OMIM:272200
Slc35A2-Cdg	Short stature, Failure to thrive in infancy, Microcephaly, Delayed myelination, Lateral ventricle...	ORPHA:356961
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea, Cardiorespiratory arrest, Irritability, Decreased CSF homovanillic acid concentration, Emo...	OMIM:608643
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxi...	ORPHA:2409
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin...	OMIM:613193
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Delayed CNS myelination, Microcephaly	OMIM:614105
Dengue Fever	Skin rash, Epistaxis, Cardiorespiratory arrest, Leukopenia, Lethargy, Thrombocytopenia	ORPHA:99828
Rhombencephalosynapsis	Microretrognathia, Hydrocephalus, Macrocephaly, Fusion of the left and right thalami, Ventriculom...	ORPHA:59315
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly, Macrocephaly	ORPHA:60040
Pontocerebellar Hypoplasia, Type 7	Apnea, Micrognathia, Cryptorchidism, Hydrocephalus, Progressive microcephaly, Muscle weakness, Ve...	OMIM:614969
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Splenomegaly, Increased CSF lactate, Focal T2 hyperintense thalamic lesion, Fa...	OMIM:619046
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Hydrocephalus, Disproportionate short-limb short stature, Macrocep...	OMIM:187600
1Q21.1 Microdeletion Syndrome	Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Depression, Intrauterine growth retar...	ORPHA:250989
Trisomy 1Q	Microretrognathia, Cryptorchidism, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Vent...	ORPHA:261344
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	External ophthalmoplegia, Irritability, Facial palsy, Lethargy	OMIM:607483
Japanese Encephalitis	Respiratory distress, Increased CSF protein concentration, Neutrophilia, Facial palsy, Abnormal p...	ORPHA:79139
Triploidy	Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Macrocephaly, Intrau...	ORPHA:3376
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Macro...	OMIM:217090
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Hypoplasia of the zygomatic bon...	ORPHA:1812
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Viral hepatitis, Herpes simplex encephalitis,...	ORPHA:83597
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Severe short stature, Short stature, Splenomegaly, Asthma, Hydrocephal...	OMIM:309900
Tetrasomy 5P	Respiratory distress, Micrognathia, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Pu...	ORPHA:3309
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Short stature, Rhizomelia, Microcephaly, Micrognathia, Cryptorchidi...	OMIM:611209
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
3C Syndrome	Short stature, Micrognathia, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Dandy-Wal...	ORPHA:7
Hydrolethalus	Micrognathia, Cryptorchidism, Hydrocephalus, Anencephaly, Laryngomalacia, Retrognathia, Agenesis ...	ORPHA:2189
Histiocytoid Cardiomyopathy	Hydrocephalus, Tachypnea, Cough, Laryngeal web, Lethargy, Failure to thrive, Agenesis of corpus c...	ORPHA:137675
Fg Syndrome Type 1	Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Pulmonary arterial hypertension, Smal...	ORPHA:93932
47,Xyy Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Asthma, Oligozoospermia,...	ORPHA:8
Histidinemia	Hyperactivity	ORPHA:2157
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus, Growth delay, Bone marrow hypocellularity, Anemia	OMIM:617244
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Craniofacial osteosclerosis, Macrocephaly, Dandy-Walker malformation, Agenesis of ...	OMIM:618476
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia, Abnormality of the ...	ORPHA:2720
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Bulbar palsy, Ophthalmoplegia, Abnormal t...	ORPHA:254930
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Respiratory insufficiency	ORPHA:207
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Trisomy 17P	Short stature, Micrognathia, Microcephaly, Hydrocephalus, Growth delay, Malar flattening, Intraut...	ORPHA:261290
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Respiratory arrest, Lethargy	OMIM:600649
Meckel Syndrome, Type 4	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retarda...	OMIM:611134
Achondroplasia	Rhizomelia, Hydrocephalus, Disproportionate short stature, Obesity, Hypoxemia, Restrictive ventil...	ORPHA:15
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Bradykinesia, Thalamic calcification	OMIM:618824
Choanal Atresia	Subglottic stenosis, Respiratory distress, Upper airway obstruction, Laryngomalacia, Tracheomalac...	ORPHA:137914
Cog5-Cdg	Short stature, Microcephaly, Cryptorchidism, Delayed myelination, Hepatosplenomegaly, Lateral ven...	ORPHA:263487
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Depression, Focal T2 hyperintense thalamic lesion, Aspiration pneumoni...	ORPHA:79264
Joubert Syndrome 3	Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Lateral ventricle dilatation...	OMIM:608629
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Pancytopenia, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocyto...	OMIM:251110
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Mirage Syndrome	Short stature, Cryptorchidism, Hydrocephalus, Thrombocytopenia, Leukopenia, Aspiration pneumonia,...	OMIM:617053
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Growth delay, Irritability, Malar flattening, Dandy-Wa...	OMIM:614424
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Failure to thrive, Ventriculomegaly, Apnea, Chronic lung disease, Short ...	ORPHA:397715
Halperin-Birk Syndrome	Micrognathia, Colpocephaly, Aspiration, Intrauterine growth retardation, Failure to thrive, Agene...	OMIM:618651
Fructose-1,6-Bisphosphatase Deficiency	Apnea, Dyspnea, Irritability, Lethargy, Hyperventilation	OMIM:229700
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, CNS demyelination	OMIM:618193
Pettigrew Syndrome	Mandibular prognathia, Microcephaly, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformatio...	OMIM:304340
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis, Apathy	OMIM:607485
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Asthma, Recurrent pneumonia, In...	OMIM:243700
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Holocarboxylase Synthetase Deficiency	Skin rash, Tachypnea, Irritability, Lethargy, Thrombocytopenia, Hyperventilation	OMIM:253270
Cholera	Tachypnea, Irritability, Aspiration pneumonia, Lethargy, Muscle weakness, Hyperventilation	ORPHA:173
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Macrocephaly, Malar flattening, Agenesis of corpus callosum, Dandy-Walker malforma...	OMIM:612582
Paganini-Miozzo Syndrome	Mandibular prognathia, Malar flattening, Lateral ventricle dilatation	OMIM:301025
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity	OMIM:601794
Progeria-Short Stature-Pigmented Nevi Syndrome	Small for gestational age, Short stature, Micrognathia, Microcephaly, Microcytic anemia, Dental m...	ORPHA:2959
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Micrognathia, Recurrent pneumonia...	OMIM:618282
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Depression, Growth delay, Macroorchidism, Lethargy, Failure to thrive, ...	ORPHA:90674
Glutaric Acidemia Type 3	Lethargy, Failure to thrive	ORPHA:35706
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ventriculomegaly, Poor head control, Delayed myelination, Lateral ventr...	ORPHA:572798
Igg4-Related Kidney Disease	Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Incr...	ORPHA:449395
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine gro...	OMIM:612863
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Diabetic Embryopathy	Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Short stature, Pure red cell aplasia, Microgna...	ORPHA:124
Joubert Syndrome With Renal Defect	Encephalocele, Apnea, Hydrocephalus, Biparietal narrowing, Agenesis of corpus callosum, Abnormal ...	ORPHA:220497
Coccidioidomycosis	Respiratory distress, Broad skull, Abnormality of the spleen, Increased circulating IgG level, Co...	ORPHA:228123
Meningioma	Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Weak extraocular...	ORPHA:2495
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Lethargy, Increased body weight, Large for gestational age	ORPHA:263455
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Tubulointerstitial nephritis, Progressi...	ORPHA:488627
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Bradykinesia, Thalamic calcification	OMIM:618317
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Intrauterine growth retardation	ORPHA:163966
Biotinidase Deficiency	Respiratory distress, Apnea, Skin rash, Myelopathy, Conjunctivitis, Lethargy, Limb muscle weaknes...	ORPHA:79241
Muenke Syndrome	Malar flattening, Hydrocephalus, Macrocephaly	ORPHA:53271
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly, Macrocephaly	ORPHA:420179
Thanatophoric Dysplasia Type 1	Hydrocephalus, Respiratory insufficiency, Macrocephaly, Lethal short-limbed short stature, Ventri...	ORPHA:1860
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr...	OMIM:617091
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Skin rash, Cachexia, Microcephaly, Hydrocephalus, Demyelinating peripheral neuropathy	ORPHA:220295
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Microcephaly, External ophthalmoplegia, Hydrocephalus, ...	OMIM:613603
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Delayed CNS myelination, Aplastic anemia, Hydrocephalus, Growth delay, Intraute...	OMIM:300514
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary dwarfism, Anterior pituitary hypoplasia, Decreased respons...	ORPHA:226307
Developmental And Epileptic Encephalopathy 49	Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:617281
Peho Syndrome	Microcephaly, Hydrocephalus, Biparietal narrowing, Malar flattening, Ventriculomegaly	ORPHA:2836
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Mild postnatal growt...	OMIM:101800
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Delayed CNS myelination, Partial agenesis of the corpus callosum, Obesity, Lateral ventricle dila...	OMIM:617296
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Failure to thrive, Apnea	OMIM:210200
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Pancytopenia, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocyto...	OMIM:251100
Non-Specific Early-Onset Epileptic Encephalopathy	Poor head control, Short stature, Microcephaly, Abnormal myelination, Failure to thrive	ORPHA:442835
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Delayed CNS myelination, Hyposegmentation of neutrophil nuclei	OMIM:620075
Gorlin Syndrome	Mandibular prognathia, Cryptorchidism, Hydrocephalus, Carious teeth	ORPHA:377
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:603387
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Microcephaly, Overweight, Carious teeth, Obesity, Yellow-brown discolo...	OMIM:619229
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Cryptorchidism, Hypothalamic hamartoma, CNS hypomyelination	OMIM:619908
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Orchitis, Keratitis, Abno...	ORPHA:449563
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus, Micrognathia	OMIM:619320
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Secondary growth hormone deficiency, Hydrocephalus, Pi...	ORPHA:91350
16Q24.3 Microdeletion Syndrome	Micrognathia, Cryptorchidism, Thrombocytopenia, Colpocephaly, Increased mean corpuscular volume, ...	ORPHA:261250
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of ...	OMIM:619244
Alkuraya-Kucinskas Syndrome	Micrognathia, Hydrocephalus, Macrocephaly, Pleural effusion, Dandy-Walker malformation, Ventricul...	OMIM:617822
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Multiple Sulfatase Deficiency	Short stature, Microcephaly, Splenomegaly, Hydrocephalus, Macrocephaly	ORPHA:585
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Apathy, Macrocephaly, Muscle weakness	ORPHA:97339
Joubert Syndrome With Ocular Defect	Encephalocele, Apnea, Hydrocephalus, Biparietal narrowing, Agenesis of corpus callosum, Abnormal ...	ORPHA:220493
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Arachnoiditis	Hydrocephalus, Muscle weakness	ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Cystic Fibrosis	Sinusitis, Reduced forced expiratory volume in one second, Asthma, Pneumothorax, Bronchiectasis, ...	ORPHA:586
Khan-Khan-Katsanis Syndrome	Lymphopenia, Short stature, Micrognathia, Microcephaly, Anemia, Colpocephaly, Neutropenia, Intrau...	OMIM:618460
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Polysplenia	OMIM:619608
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Absent inner and out...	OMIM:615444
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Apnea, Laryngeal web, Short stature, Micrognathia, Facia...	OMIM:300373
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Cough	OMIM:619607
Holoprosencephaly 14	Ventriculomegaly, Microcephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Par...	OMIM:619895
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus	OMIM:615862
Genitopalatocardiac Syndrome	Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation	ORPHA:2075
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Micrognathia, Hydrocephalus, Agenesis of corpus callosu...	ORPHA:314585
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Fatigable weakness of speech muscles, Abnormal myelination, Poor head control, Small for gestatio...	ORPHA:404454
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus, Epistaxis, Cerebral arteriovenous malformation	ORPHA:137667
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, P...	OMIM:618986
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Growth delay, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Encephalocraniocutaneous Lipomatosis	Astrocytoma, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
Ciliary Dyskinesia, Primary, 19	Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Respiratory insuffi...	OMIM:614935
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Failure to thrive, Lethargy, Proportionate short stature	ORPHA:71212
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal peripheral myelination,...	ORPHA:466768
Tetrasomy 15Q26	Microretrognathia, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Cockayne Syndrome A	Mandibular prognathia, Short stature, Abnormal peripheral myelination, Delayed eruption of primar...	OMIM:216400
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, R...	ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Hydrocephalus, Partial agenesis of the corpus callosum,...	OMIM:614643
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea, Leukody...	ORPHA:444013
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Accessory spleen, CNS hypomyelination, Secondary microcephaly, Fusion o...	OMIM:619306
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy	ORPHA:156
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Short stature, Microcephaly, Cryptorchidism, Hydrocephal...	OMIM:227646
Cockayne Syndrome B	Mandibular prognathia, Severe short stature, Small for gestational age, Abnormal peripheral myeli...	OMIM:133540
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Delayed CNS myelination, Microcephaly, Aqueductal stenosis, Cryptorchidism...	OMIM:619512
Mucopolysaccharidosis, Type Vii	Severe short stature, Short stature, Postnatal growth retardation, Splenomegaly, Hydrocephalus, R...	OMIM:253220
H Syndrome	Psoriasiform dermatitis, Short stature, Microcytic anemia, Recurrent pharyngitis, Hydrocephalus, ...	ORPHA:168569
Biotinidase Deficiency	Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Tachypnea, Conj...	OMIM:253260
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Distal Deletion 10Q	Failure to thrive, Short stature, Micrognathia, Microcephaly, Postnatal growth retardation, Facia...	ORPHA:96148
Maple Syrup Urine Disease	Lethargy, Pancreatitis	OMIM:248600
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T...	OMIM:557000
Joubert Syndrome 2	Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus...	OMIM:608091
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Hypopituitarism	ORPHA:90065
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, D...	OMIM:615518
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Asthma, Retrogna...	ORPHA:544488
Carnitine Palmitoyltransferase I Deficiency	Lethargy	OMIM:255120
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Short stature, Micrognathia, Hydrocephalus, Dentinogenesis imperfecta	OMIM:112240
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape, External ophthalmoplegia, Abnormal thalamic MRI signal intensity, G...	ORPHA:485421
Holoprosencephaly 7	Hypoplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Hydrocephalus, Partial agen...	OMIM:610828
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Focal T2 hyperintense thalamic lesion	OMIM:613724
Gracile Bone Dysplasia	Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Failure to thrive	OMIM:602361
Stromme Syndrome	Accessory spleen, Micrognathia, Microcephaly, Hydrocephalus, Stillbirth, Agenesis of corpus callosum	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Agenesis of corpus ca...	OMIM:253800
Joubert Syndrome	Encephalocele, Apnea, Episodic tachypnea, Hydrocephalus, Biparietal narrowing, Abnormal pattern o...	ORPHA:475
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Micrognathia, Hydrocephalus, Malar flattening, Neonatal shor...	OMIM:224400
Proteus-Like Syndrome	Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Splenomegaly, Hydrocephal...	ORPHA:2969
Chromosome 17P13.1 Deletion Syndrome	Delayed CNS myelination, Poor head control, Spina bifida, Microcephaly, Hydrocephalus, Hydrocele ...	OMIM:613776
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Delayed CNS myelination, Short stature, Microcephaly, CNS hypomyelination, Irritability, Lateral ...	OMIM:618367
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Dubowitz Syndrome	Delayed eruption of teeth, Short stature, Eczema, Abnormality of neutrophils, Micrognathia, Micro...	ORPHA:235
Joubert Syndrome With Oculorenal Defect	Encephalocele, Apnea, Hydrocephalus, Tachypnea, Biparietal narrowing	ORPHA:2318
Distal Triplication 15Q	Micrognathia, Large for gestational age, Hydrocephalus, Hydrocele testis, Intrauterine growth ret...	ORPHA:314588
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Recurrent otitis media, Lateral ventricle dilatation, Short stature	OMIM:619995
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Microcephaly, Micrognathia, Seborrheic dermatitis, Delayed myelination...	OMIM:300868
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Microcephaly, Growth delay, Abnormal myelination, Intrauterine growth retardation	OMIM:617333
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Delayed CNS myelination, Splenomegaly, Schisto...	OMIM:616084
Lysinuric Protein Intolerance	Glomerulonephritis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Resp...	ORPHA:470
Argininosuccinic Aciduria	Irritability, Failure to thrive, Lethargy, Elevated CSF argininosuccinic acid concentration	OMIM:207900
New-Onset Refractory Status Epilepticus	Increased CSF protein concentration, CSF pleocytosis, Infectious encephalitis, Abnormal thalamic ...	ORPHA:363558
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Hydrocephalus, Short stature, Micrognathia	ORPHA:1834
Hurler Syndrome	Short stature, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Abnormal CNS myelination, Macroce...	OMIM:607014
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Keratoconjunctivitis sicca, Macrocephaly, Intrauter...	OMIM:616914
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Lateral ventricle dilatation, Retrognathia, Micrognathia	OMIM:618914
Isotretinoin-Like Syndrome	Micrognathia, Postnatal growth retardation, Microcephaly, Hydrocephalus, Intrauterine growth reta...	ORPHA:2306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Micrognathia, Mesomelic/rhizomelic limb shortening, Hydrocephalus, N...	ORPHA:2839
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Malar flattening, Hydrocephalus, Delayed myelination	OMIM:239300
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Leukopenia, Pulmonary arterial hypertension, Failure to thrive, Thr...	ORPHA:974
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Apnea, Short mandibular rami, Short stature, Bil...	OMIM:602535
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Achondroplasia	Respiratory distress, Rhizomelia, Hydrocephalus, Upper airway obstruction, Macrocephaly, Recurren...	OMIM:100800
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Short stature, Microcephaly, Cryptorchidism, Retrognathia, Colpocephaly, M...	OMIM:620083
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Respi...	ORPHA:87
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Cryptorchidism, Hydrocephalus, Abnormality of the larynx, Agenesis of corpus callosum	ORPHA:3301
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Microcephaly, Cryptorchidism, Hydrocephalus, Abnorma...	ORPHA:2162
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly, Microcephaly	ORPHA:2165
Endocrine-Cerebroosteodysplasia	Natal tooth, Micrognathia, Laryngeal hypoplasia, Cryptorchidism, Hydrocephalus, Hypoplasia of the...	OMIM:612651
Cerebral Visual Impairment	Hydrocephalus, Infectious encephalitis, Microcephaly	ORPHA:447788
Jacobsen Syndrome	Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Macrocephaly, Intra...	OMIM:147791
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Bulbar palsy, Pneumonia, Hypercapnia, Facial ...	ORPHA:79138
Basal Cell Nevus Syndrome 2	Hydrocephalus, Macrocephaly	OMIM:620343
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ...	OMIM:219700
Bainbridge-Ropers Syndrome	Microcephaly, Micrognathia, Cryptorchidism, Retrognathia, Growth delay, Lateral ventricle dilatat...	OMIM:615485
22Q11.2 Deletion Syndrome	Impaired T cell function, Micrognathia, Hypoplasia of the thymus, Chronic otitis media, Bipolar a...	ORPHA:567
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Short stature, Micrognathia, Splenomegaly, Hydrocephalus, Dental malocclus...	OMIM:115150
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus...	OMIM:264480
Neurooculorenal Syndrome	Subglottic stenosis, Ectopic posterior pituitary, Micrognathia, Aqueductal stenosis, Cryptorchidi...	OMIM:620305
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Abnormal thalamus morphology, Micrognathia	ORPHA:404440
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Hydrocephalus, Tubulointerstitial nephritis, Agenesis of corpus ca...	ORPHA:157
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Thrombocytopenia, Hydrocephalus, Delayed myelination, Hepatosplenomegaly, S...	ORPHA:505248
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive, Seborrheic dermatitis	OMIM:210210
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Micrognathia, Cryptorchidism, Respiratory insufficiency, Thrombocyto...	ORPHA:1237
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure, Short stature	ORPHA:1861
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
Spondylocostal Dysostosis 4, Autosomal Recessive	Short stature, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Hyd...	OMIM:613686
Aicardi Syndrome	Prominence of the premaxilla, Delayed CNS myelination, Spina bifida, Microcephaly, Postnatal grow...	OMIM:304050
Multiple Endocrine Neoplasia Type 1	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Pituitary cortico...	ORPHA:652
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Bradykinesia, Emotional lability...	ORPHA:157846
Hurler Syndrome	Short stature, Splenomegaly, Hydrocephalus, Depression, Growth delay, Rhinitis	ORPHA:93473
Posterior Urethral Valve	Postnatal growth retardation, Lethargy, Retrognathia, Pyelonephritis	ORPHA:93110
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	External ophthalmoplegia, Lethargy, Failure to thrive	OMIM:201470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Meningoenceph...	OMIM:236670
Citrullinemia, Classic	Irritability, Failure to thrive, Lethargy	OMIM:215700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus, Leukemia, Micrognathia	OMIM:619951
Familial Hypoaldosteronism	Growth delay, Lethargy, Failure to thrive	ORPHA:427
Orofaciodigital Syndrome I	Microretrognathia, Short stature, Microcephaly, Carious teeth, Hydrocephalus, Supernumerary tooth...	OMIM:311200
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly, Micrognathia	OMIM:617866
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Short stature, Decreased response to growth hormone stimulation test, Micr...	OMIM:616007
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Dyspnea, Hydrocephalus, Perito...	ORPHA:1546
Raine Syndrome	Mandibular prognathia, Natal tooth, Short stature, Micrognathia, Microcephaly, Hydrocephalus, Neo...	OMIM:259775
Cerebrooculonasal Syndrome	Encephalocele, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Malar flattening, Dandy...	OMIM:605627
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Phace Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Cerebral arteriovenous malformation, Micr...	ORPHA:42775
Helsmoortel-Van Der Aa Syndrome	Poor head control, Short stature, Decreased response to growth hormone stimulation test, Facial p...	OMIM:615873
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus, Laryngeal atresia	OMIM:314390
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy, Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Decreased response to growth hormone stimulation test, Testicular neop...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Testicular neop...	ORPHA:363958
Czeizel-Losonci Syndrome	Spina bifida, Micrognathia, Hydrocephalus, Myelomeningocele, Spina bifida occulta	ORPHA:2437
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Malar flattening, Hydrocephalus, Delayed CNS myelination	OMIM:618590
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Short stature, Pneumonia, Carious teeth, Splenomegaly, Hydrocephalus, ...	OMIM:253200
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Sandhoff Disease, Infantile Form	CNS hypomyelination, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Hepatosple...	ORPHA:309155
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Keratitis, Hydrocephalus, Conjunctivitis	OMIM:123500
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Hydrocephalus, Malar flattening, Agenesis of corpus callosum, ...	OMIM:123790
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Irritability, Failure to thrive, Lethargy	OMIM:311250
Congenital Sialidosis Type 2	Hepatosplenomegaly, Hydrocephalus, Macrocephaly	ORPHA:93400
Marden-Walker Syndrome	Severe short stature, Micrognathia, Microcephaly, Hydrocephalus, Retrognathia, Growth delay, Intr...	ORPHA:2461
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Osteomyelitis, Microcephaly, Overweight, Peripheral demyelination, Hydroce...	OMIM:619475
Short-Rib Thoracic Dysplasia 12	Natal tooth, Splenomegaly, Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencepha...	OMIM:269860
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Apnea, Splenomegaly, Hydrocephalus, Biparietal narrowing, Macrocephaly, ...	ORPHA:1454
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Cryptorchidism, Hydrocephalus, Hypoplasia of the maxilla	OMIM:601499
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Laryngomalacia, Tracheomalacia, Malar f...	ORPHA:93259
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Dyspnea, Respiratory failure, Chroni...	OMIM:615636
Osteootohepatoenteric Syndrome	Asthma, Hydrocephalus, Weight loss, Failure to thrive, Anemia	OMIM:619377
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Short stature, Micrognathia, Bilateral cryptorchidism, Growth delay, B...	ORPHA:2754
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Cryptorchidism, Hydrocephalus, Dental mal...	OMIM:101200
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Short stature, Cryptorchidism, Hydrocephalus, Hypoplasia of the zyg...	ORPHA:1340
Opitz-Kaveggia Syndrome	Relative macrocephaly, Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Partial agenes...	OMIM:305450
7Q11.23 Microduplication Syndrome	Short stature, Tracheomalacia, Micrognathia, Cryptorchidism, Hydrocephalus, Dental malocclusion, ...	ORPHA:96121
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ophthalmoparesis, Abnormal thalamic MRI signal intensity, Proximal muscle weakness, Depression	ORPHA:70595
Shprintzen-Goldberg Craniosynostosis Syndrome	Abdominal wall muscle weakness, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocep...	OMIM:182212
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Short stature, Abnormal dental enamel mor...	ORPHA:2050
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Abnormal thalamus morphology, Micrognathia	ORPHA:435638
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Eczema, Asthma, Hydrocephalus, Decreased circulating total IgM	OMIM:618162
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Retrognathia, Choroid plexus cyst, Primary microcephaly	ORPHA:293725
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Otitis media, Aspiration, Abnormal lateral ventricle morphology, Short stature, Cry...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Otitis media, Aspiration, Abnormal lateral ventricle morphology, Short stature, Cry...	ORPHA:353277
Lateral Meningocele Syndrome	Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Malar flattening	OMIM:130720
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Microcephaly, Recurrent pneumonia, Retrognathia, Lateral ventricle dilatat...	ORPHA:464738
Weaver Syndrome	Mandibular prognathia, Delayed CNS myelination, Cryptorchidism, Hydrocele testis, Lateral ventric...	OMIM:277590
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Lymphopenia, Maculopapular exanthema, Skin rash, Orchitis, Nonprod...	ORPHA:99826
Pallister-Hall Syndrome	Natal tooth, Bifid epiglottis, Short stature, Decreased response to growth hormone stimulation te...	OMIM:146510
Full Nf2-Related Schwannomatosis	Astrocytoma, Glioma, Facial palsy, Myelopathy, Hydrocephalus, Ependymoma, Wrist drop, Foot dorsif...	ORPHA:637
Gaucher Disease	Pancytopenia, Osteomyelitis, Short stature, Thrombocytopenia, Hydrocephalus, Osteoarthritis, Sple...	ORPHA:355
Hec Syndrome	Communicating hydrocephalus, Abnormality of the pharynx, Vaginal hydrocele, Respiratory insuffici...	ORPHA:2119
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus	OMIM:101600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Low frustration tolerance, Macrocephaly	ORPHA:457279
Mohr Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of central inciso...	OMIM:252100
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Short stature, Anterior pituitary hypoplasia, Decreased response to growth ...	ORPHA:177907
Fanconi Anemia, Complementation Group L	Delayed CNS myelination, Micrognathia, Hydrocephalus, Growth delay, Bone marrow hypocellularity, ...	OMIM:614083
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Progressive macrocephaly, Increased head circumference, Subependymal...	ORPHA:25
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Apnea, Microcephaly, Micrognathia, Cryptorchidism, Hypoplasia of the...	ORPHA:2462
Glycerol Kinase Deficiency	Small for gestational age, Short stature, Chronic pancreatitis, Cryptorchidism, Growth delay, Let...	OMIM:307030
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Cryptorchidism, Hydrocephalus, Hypoplasia of the zygomatic bone, Malar flat...	ORPHA:1555
Neurofibromatosis, Type I	Astrocytoma, Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Optic...	OMIM:162200
Gabriele-De Vries Syndrome	Delayed CNS myelination, Micrognathia, Cryptorchidism, Lateral ventricle dilatation, Intrauterine...	OMIM:617557
Meckel Syndrome, Type 1	Dilated fourth ventricle, Natal tooth, Ventriculomegaly, Accessory spleen, Occipital encephalocel...	OMIM:249000
Oxoglutaric Aciduria	Hydrocephalus, Short stature	ORPHA:31
Otopalatodigital Syndrome Type 2	Encephalocele, Micrognathia, Hydrocephalus, Hypoplastic frontal sinuses, Myelomeningocele, Malar ...	ORPHA:90652
Monosomy 9Q22.3	Delayed eruption of teeth, Large for gestational age, Hydrocephalus, Macrocephaly, Ventriculomegaly	ORPHA:77301
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Cousin Syndrome	Rhizomelia, Micrognathia, Hydrocephalus, Disproportionate short stature, Macrocephaly, Hydranence...	OMIM:260660
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Hydrocephalus, Tubulointerstitial nephritis, Agenesis of corpus ca...	ORPHA:228308
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Short stature, Micrognathia, Aqueductal stenosis, Microcephaly, Hydrocephalu...	OMIM:154400
Cirrhosis, Familial	Pulmonary arterial hypertension, Fulminant hepatitis, Lethargy	OMIM:215600
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Short stature, Micrognathia	ORPHA:1064
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Adenoiditis, Splenomegaly, Hydrocephalus, Upper airway obstruction, Fa...	ORPHA:581
Hajdu-Cheney Syndrome	Short stature, Micrognathia, Absent frontal sinuses, Splenomegaly, Hydrocephalus, Abnormal mandib...	ORPHA:955
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia	OMIM:243440
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Noonan Syndrome 14	Cryptorchidism, Lateral ventricle dilatation, Lymphopenia, Short stature	OMIM:619745
Orofaciodigital Syndrome Vi	Short stature, Micrognathia, Hypothalamic hamartoma, Occipital meningocele, Failure to thrive, Ag...	OMIM:277170
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Mild postnatal growth retardation, Cerebral arterioveno...	OMIM:150230
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Severe short stature, Abnormal dental enamel morphology, Facial palsy, Cry...	ORPHA:2658
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Intrauterine growth retardation, Failure to thrive, Lethargy	OMIM:617156
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Small for gestational age, Short stature, Microcephaly, Retrognathia, L...	OMIM:619869
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Delayed eruption of...	OMIM:300952
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Small for gestational age, Pneumonia, Short stature, Micr...	OMIM:264090
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short stature, Microcephaly, Cryptorchidism, Broad skull, Hydrocephalus, Thrombocytopenia, Respir...	ORPHA:163979
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Hydrocephalu...	ORPHA:2072
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Disproportionate short stature, Partia...	OMIM:210710
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Temporomandibular joint crepitus, Distal ...	ORPHA:2388
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Short stature, Spina bifida, Microcephaly, Micrognath...	ORPHA:84
Vacterl With Hydrocephalus	Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine grow...	ORPHA:3412
Fontaine Progeroid Syndrome	Mandibular prognathia, Small for gestational age, Short stature, Microcephaly, Micrognathia, Cryp...	OMIM:612289
Wolf-Hirschhorn Syndrome	Accessory spleen, Small for gestational age, Short stature, Microcephaly, Micrognathia, Cryptorch...	OMIM:194190
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Severe short stature, Abnormal dental enamel morphology, Microcephaly, Micr...	ORPHA:2556
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Tachypnea	OMIM:615751
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus	ORPHA:1947
Campomelic Dysplasia	Relative macrocephaly, Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, ...	OMIM:114290
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Delayed myelination, Ventriculomegaly	ORPHA:457284
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mandibular prognathia, Pancytopenia, Pneumonia, Hepatosplenomegaly, ...	ORPHA:309282
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Failure to thrive, Tachypnea, Hepatitis	ORPHA:415
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growth hormone stimulati...	ORPHA:293978
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased circulating antibody level, Agammaglo...	OMIM:601495
Keppen-Lubinsky Syndrome	Micrognathia, Microcephaly, Recurrent pneumonia, Upper airway obstruction, Respiratory insufficie...	OMIM:614098
Keutel Syndrome	Sinusitis, Cartilaginous ossification of larynx, Recurrent otitis media, Malar flattening, Emphys...	OMIM:245150
Osteogenesis Imperfecta	Relative macrocephaly, Delayed eruption of teeth, Abnormality of dental color, Neonatal respirato...	ORPHA:666
Smith-Lemli-Opitz Syndrome	Microretrognathia, Short stature, Eczema, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephal...	OMIM:270400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Micrognathia, Carious teeth, Postnatal growth reta...	ORPHA:536467
Microphthalmia, Syndromic 3	Short stature, Anterior pituitary hypoplasia, Microcephaly, Postnatal growth retardation, Cryptor...	OMIM:206900
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Malar flattening, Hydrocephalus, Upper airway obstruction	OMIM:207410
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Hajdu-Cheney Syndrome	Short stature, Micrognathia, Absent frontal sinuses, Cryptorchidism, Hydrocephalus, Dental malocc...	OMIM:102500
Kabuki Syndrome	Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Obesity, Failure to thrive, Ventricul...	ORPHA:2322
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Rhizomelia, Short stature, Micrognathia, Hydrocephalus	OMIM:245600
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Cryptorchidism, Hydrocep...	ORPHA:2166
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Lateral ventricle dilatation, Disproportionate short-limb short st...	OMIM:619479
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Delayed CNS myelination, Poor head control, Microcephaly, Lateral ventricl...	OMIM:300896
Kabuki Syndrome 1	Hemolytic anemia, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Autoi...	OMIM:147920
Mosaic Trisomy 1	Microretrognathia, Lateral ventricle dilatation, Agenesis of corpus callosum, Macrocephaly	ORPHA:1692
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Apnea, Splenomegaly, Hydrocephalus, Growth delay, Otitis media, Macroc...	ORPHA:667
Aymé-Gripp Syndrome	Pericarditis, Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Ventric...	ORPHA:1272
Parkes Weber Syndrome	Myelopathy, Lower limb muscle weakness, Cerebral arteriovenous malformation	ORPHA:90307
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum, Micrognathia	ORPHA:268249
Trisomy 8P	Microcephaly, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Retrog...	ORPHA:264450
Genitourinary And/Or Brain Malformation Syndrome	Micrognathia, Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, H...	OMIM:618820
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Mandibular prognathia, Large for gestational age, Macrocephaly, Mala...	OMIM:617011
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Micrognathia, Microcephaly, Colpocephaly, Agenesis of corpus callosum, ...	OMIM:301043
Degcags Syndrome	Micrognathia, Leukopenia, Iron deficiency anemia, Intrauterine growth retardation, Agenesis of co...	OMIM:619488
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Pseudoaminopterin Syndrome	Short stature, Micrognathia, Asplenia, Cryptorchidism, Hydrocephalus, Ophthalmoplegia, Fatigable ...	ORPHA:221120
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Lhermitte-Duclos Disease	Hydrocephalus, Macrocephaly	ORPHA:65285
Mend Syndrome	Microretrognathia, Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Failure to thrive,...	OMIM:300960
Sturge-Weber Syndrome	Pulmonary embolism, Hydrocephalus, Macrocephaly	ORPHA:3205
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63259
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microretrognathia, Microcephaly, Bilateral cryptorchidism, Supernumerar...	ORPHA:434179
Thakker-Donnai Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum	ORPHA:1780
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Hereditary Fructose Intolerance	Growth delay, Lethargy	ORPHA:469
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Gaucher Disease, Type Iiic	Splenomegaly, Hydrocephalus, Supranuclear ophthalmoplegia, Pancytopenia	OMIM:231005
Mend Syndrome	Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malfo...	ORPHA:401973
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Colpocephaly, Delayed myelination, Macrocephaly	ORPHA:477993
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Microcephaly, Hydrocephalus, Generalized muscle weakness, Muscle weakness, Malar fl...	OMIM:253280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Microcephaly, Leukocytosis, Hydrocephalus, Abdominal obesity, Intrauterine growth ...	OMIM:619321
6Q Terminal Deletion Syndrome	Micrognathia, Obesity, Colpocephaly, Macrocephaly, Failure to thrive	ORPHA:75857
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Leukodystrophy, Agenesis of corpus callosu...	ORPHA:3455
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc...	ORPHA:268810
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Micrognathia	OMIM:617667
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Hydrocephalus, Spina bifida, Macrocephaly	OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Eisenmenger Syndrome	Respiratory distress, Brain abscess, Increased pulmonary vascular resistance, Wheezing, Hypochrom...	ORPHA:97214
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Short stature, Anterior pituitary hypoplasia,...	OMIM:619841
Meckel Syndrome	Accessory spleen, Encephalocele, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Asple...	ORPHA:564
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Biparietal narr...	ORPHA:261337
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Mandibular prognathia, Large for gestational age, Macrocephaly, Mala...	ORPHA:457359
Costello Syndrome	Short stature, Micrognathia, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory ...	OMIM:218040
Juvenile Polyposis Syndrome	Spontaneous, recurrent epistaxis, Brain abscess, Epistaxis, Cerebral arteriovenous malformation, ...	ORPHA:2929
Exercise-Induced Malignant Hyperthermia	Crackles, Tachypnea, Muscle weakness, Hypocapnia, Lethargy, Thrombocytopenia	ORPHA:466650
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Polysplenia	ORPHA:1335
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Generalized muscle weakness, Apathy	ORPHA:306674
Peters-Plus Syndrome	Rhizomelia, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Hypoplasia of the maxilla,...	OMIM:261540
Aceruloplasminemia	Refractory anemia, Apathy, Abnormal thalamic MRI signal intensity, Hypochromic microcytic anemia	ORPHA:48818
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Yunis-Varon Syndrome	Short stature, Micrognathia, Abnormality of dental structure, Cryptorchidism, Hydrocephalus, Post...	ORPHA:3472
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Respiratory distress, Ventriculomegaly, Splenic cyst	OMIM:618188
Neurofibromatosis Type 1	Astrocytoma, Short stature, Cryptorchidism, Hydrocephalus, Chronic myelogenous leukemia, Macrocep...	ORPHA:636
Tuberous Sclerosis Complex	Respiratory distress, Pituitary adenoma, Noncommunicating hydrocephalus, Subependymal giant-cell ...	ORPHA:805
Microphthalmia With Limb Anomalies	Short stature, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cryptorchid...	ORPHA:1106
Dextrocardia	Abnormality of the spleen, Hydrocephalus	ORPHA:1666
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test...	ORPHA:67045
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Retrognathia	ORPHA:2736
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Lymphopenia	OMIM:207731
Pallister-Hall Syndrome	Bifid epiglottis, Large for gestational age, Gonadotropin deficiency, Holoprosencephaly, Microret...	ORPHA:672
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Hydrocephalus, Oligozoospermia, S...	ORPHA:95699
Peters Plus Syndrome	Short stature, Rhizomelia, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Postnatal g...	ORPHA:709
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Micrognathia, Cryptorchidism, Hydrocephalus, Stillbirth, Intrauterine ...	OMIM:208150
Chromosome 1P36 Deletion Syndrome, Distal	Delayed CNS myelination, Microcephaly, Cryptorchidism, Hydrocephalus, Obesity, Growth delay, Late...	OMIM:607872
Norrie Disease	Failure to thrive, Cachexia, Microcephaly, Cryptorchidism, Irritability, Delayed puberty, Malar f...	ORPHA:649
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Lethargy, Growth delay	OMIM:218700
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Pulmonary embolism, Abnormal erythrocyte enzyme ...	ORPHA:447
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Encephalocele, Microcephaly, Cryptorchidism, Hydrocephal...	OMIM:219000
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal thalamic MRI signal intensity	ORPHA:529808
Tetrasomy 9P	Myositis, Pericarditis, Abnormal dental enamel morphology, Micrognathia, Cryptorchidism, Hydrocep...	ORPHA:3310
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Short stature, Splenomegaly, Recurrent upper respiratory tract infec...	ORPHA:580
Lymphangioleiomyomatosis	Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphysema	ORPHA:538
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Abnormal paranasal sinus morphology, Abnormal facial skeleton ...	ORPHA:141099
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Aqueductal stenosis, Asplenia, Hydrocephalus, Myelomeningocele, Polysplenia...	OMIM:306955
Focal Dermal Hypoplasia	Delayed eruption of teeth, Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Myelomenin...	OMIM:305600
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus tract, Rectal abscess	OMIM:600145
Hydrolethalus Syndrome 1	Accessory spleen, Laryngeal hypoplasia, Micrognathia, Anencephaly, Stillbirth, Severe hydrocephal...	OMIM:236680
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Failure to thrive in infancy, Proportionate short stature, Hypoplasia of t...	ORPHA:500150
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Breathing dysregulation	ORPHA:407
Nelson Syndrome	Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Ab...	ORPHA:199244
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Splenomegaly, Hydrocephalus, A...	OMIM:619534
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Hydrocephalus, Apnea	OMIM:261740
Fructose Intolerance, Hereditary	Lethargy, Failure to thrive	OMIM:229600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Hypoplasia of the epiglottis, Abnormality of the larynx	OMIM:263520
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Epistaxis, Cerebral arteriovenous malformation	OMIM:175050
Coffin-Siris Syndrome 12	Short stature, Facial palsy, Microcephaly, Micrognathia, Cryptorchidism, Noncommunicating hydroce...	OMIM:619325
Williams Syndrome	Failure to thrive in infancy, Abnormal dental enamel morphology, Short stature, Microcephaly, Mic...	ORPHA:904
Telangiectasia, Hereditary Hemorrhagic, Type 1	Spontaneous, recurrent epistaxis, Brain abscess, Cerebral arteriovenous malformation, Dyspnea, He...	OMIM:187300
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Micrognathia, Postnatal growth retardation, Cryptorchidism, Hydrocep...	OMIM:304120
Baller-Gerold Syndrome	Severe short stature, Short stature, Micrognathia, Hydrocephalus, Severe intrauterine growth reta...	OMIM:218600
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Periodontitis, Dandy-Walker malformation	ORPHA:722
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Lateral ventricle dilatation, Short stature, Pyelonephritis	OMIM:181270
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Frontal encephalocel...	OMIM:268300
Telangiectasia, Hereditary Hemorrhagic, Type 2	Spontaneous, recurrent epistaxis, Brain abscess, Cerebral arteriovenous malformation, Dyspnea, Pu...	OMIM:600376
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Micrognathia, Hydrocephalus, Malar flattening, Retrog...	OMIM:609192
Ciliary Dyskinesia, Primary, 20	Productive cough, Absent outer dynein arms, Recurrent pneumonia, Bronchiectasis, Respiratory insu...	OMIM:615067
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Genitopatellar Syndrome	Delayed eruption of teeth, Micrognathia, Microcephaly, Cryptorchidism, Colpocephaly, Laryngomalac...	OMIM:606170
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Thrombocytopenia, Cough	ORPHA:464321
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Short stature, Anemia	ORPHA:3042
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Micrognathia	OMIM:273395
Telangiectasia, Hereditary Hemorrhagic, Type 4	Dyspnea, Spontaneous, recurrent epistaxis, Cerebral arteriovenous malformation	OMIM:610655
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Neonatal respiratory distress, Cryptorchidism, Hydrocephalus, Splenomegaly...	OMIM:312870
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Distal...	ORPHA:573278
Loeys-Dietz Syndrome 2	Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Micrognathia, Hydrocephalus...	OMIM:610168
Pineoblastoma	Lethargy	ORPHA:251909
Townes-Brocks Syndrome 1	Small for gestational age, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly	OMIM:107480
Oeis Complex	Cryptorchidism, Hydrocephalus, Myelomeningocele	OMIM:258040
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Short stature, Asplenia, Cryptorchidism, Decrea...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Short stature, Asplenia, Cryptorchidism, Decrea...	ORPHA:261552
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening...	OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hydrocephalus	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rsph9 MGI:1922814

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Eye Morphology

Gross Pathology and Tissue Collection

X-ray

Human diseases caused by Rsph9 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data