ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

X-linked lissencephaly with abnormal genitalia

Partington syndrome

ARX

ARX

Citations in the biomedical literature:

X-linked lissencephaly with abnormal genitalia		Partington syndrome
	Synonym(s): - X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies - X-linked lissencephaly with ambiguous genitalia - XLAG syndrome		Synonym(s): - Partington-Mulley syndrome - X-linked intellectual deficit - dystonia - dysarthria

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 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
Partington syndrome
(no data available)