ODCs

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X-linked lissencephaly with abnormal genitalia

1 OMIM reference -
1 associated gene
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Micrencephaly - corpus callosum agenesis - abnormal genitalia

1 OMIM reference -
1 associated gene
22 signs/symptoms

X-linked lissencephaly with abnormal genitalia

Micrencephaly - corpus callosum agenesis - abnormal genitalia

ARX

(UniProt - OMIM)

ARX

(UniProt - OMIM)


COMMON GENES	ARX

Citations in the biomedical literature:

X-linked lissencephaly with abnormal genitalia		Micrencephaly - corpus callosum agenesis - abnormal genitalia
	Synonym(s): - X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies - X-linked lissencephaly with ambiguous genitalia - XLAG syndrome		Synonym(s): - Proud-Levine-Carpenter syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: unknown Average age onset: neonatal/infancy 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


COMMON SIGNS	- Corpus callosum / septum pellucidum total / partial agenesis - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus

X-linked lissencephaly with abnormal genitalia		Micrencephaly - corpus callosum agenesis - abnormal genitalia
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Ambiguous genitalia - Micropenis / small penis / agenesis - 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 - Micrognathia / retrognathia / micrognathism / retrognathism - Pancreatic failure / exocrine pancreas disease - Patent ductus arteriosus - Ventricular septal defect / interventricular communication		Very frequent - Short stature / dwarfism / nanism - X-linked dominant inheritance Frequent - Abnormal implantation of hair - Coarse face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hirsutism / hypertrichosis / Increased body hair - Nystagmus - Prominent / bat ears - Scoliosis - Spindle shaped fingers - Strabismus / squint Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Megaureter / hydronephrosis / pyeloureteral junction syndrome