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Micrencephaly - corpus callosum agenesis - abnormal genitalia
1 OMIM reference -
1 associated gene
7 connected diseases
22 signs/symptoms
Disease Type of connection
Early infantile epileptic encephalopathy
Infantile epileptic-dyskinetic encephalopathy
Partington syndrome
Spasticity - intellectual deficit - X-linked epilepsy
West syndrome
X-linked lissencephaly with abnormal genitalia
X-linked non-syndromic intellectual deficit
Synonym(s):
- Proud-Levine-Carpenter syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare urogenital disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ARX Q96QS3300382
Very frequent
- 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
- 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