ODCs

Cytoscape Web

Click node...

2 OMIM references -
6 associated genes
No signs/symptoms info

COMMON GENES: 1

X-linked lissencephaly with abnormal genitalia

1 OMIM reference -
1 associated gene
21 signs/symptoms

West syndrome

X-linked lissencephaly with abnormal genitalia

ARX	(UniProt - OMIM)		ARX	(UniProt - OMIM)
CDKL5	(UniProt - OMIM)
GRIN2B	(UniProt - OMIM)
PIGA	(UniProt - OMIM)
SCN2A	(UniProt - OMIM)
ST3GAL3	(UniProt - OMIM)


COMMON GENES	ARX

Citations in the biomedical literature:

West syndrome		X-linked lissencephaly with abnormal genitalia
	Synonym(s): - Infantile spasms - Intellectual deficit - hypsarrhythmia		Synonym(s): - X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies - X-linked lissencephaly with ambiguous genitalia - XLAG syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare urogenital disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

X-linked lissencephaly with abnormal genitalia
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Ambiguous genitalia - Corpus callosum / septum pellucidum total / partial agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Micropenis / small penis / agenesis - Seizures / epilepsy / absences / spasms / status epilepticus - Undescended / ectopic testes / cryptorchidia / unfixed testes - X-linked recessive inheritance Frequent - Death in infancy - Dilated cerebral ventricles without hydrocephaly - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotonia - Malabsorption / chronic diarrhea / steatorrhea Occasional - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Frontal bossing / prominent forehead - Hypertonia / spasticity / rigidity / stiffness - Micrognathia / retrognathia / micrognathism / retrognathism - Pancreatic failure / exocrine pancreas disease - Patent ductus arteriosus - Ventricular septal defect / interventricular communication
West syndrome
(no data available)