Synonym(s): - X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies - X-linked lissencephaly with ambiguous genitalia - XLAG syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare urogenital disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
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 - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ARX	Q96QS3	300382

- 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

- Death in infancy
- Dilated cerebral ventricles without hydrocephaly
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotonia
- Malabsorption / chronic diarrhea / steatorrhea

- 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