ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
8 signs/symptoms

MASA syndrome

X-linked complicated corpus callosum dysgenesis

Citations in the biomedical literature:

MASA syndrome		X-linked complicated corpus callosum dysgenesis
	Synonym(s): - Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536029		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - X-linked recessive inheritance

MASA syndrome		X-linked complicated corpus callosum dysgenesis
	Very frequent - Abnormal gait - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Camptodactyly of fingers - Clinodactyly of fifth finger Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly		Very frequent - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hypertonia / spasticity / rigidity / stiffness - Microcephaly - Muscle weakness / flaccidity Occasional - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease