ODCs

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1 OMIM reference -
1 associated gene
22 signs/symptoms

COMMON GENES: 1

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

Micrencephaly - corpus callosum agenesis - abnormal genitalia

West syndrome

Citations in the biomedical literature:

Micrencephaly - corpus callosum agenesis - abnormal genitalia		West syndrome
	Synonym(s): - Proud-Levine-Carpenter syndrome		Synonym(s): - Infantile spasms - Intellectual deficit - hypsarrhythmia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - 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): - Diseases of the nervous system -

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Micrencephaly - corpus callosum agenesis - abnormal genitalia
	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
West syndrome
(no data available)