ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
25 signs/symptoms

Acute infantile liver failure-multisystemic involvement syndrome

X-linked intellectual deficit, Najm type

LARS	(UniProt - OMIM)		CASK	(UniProt - OMIM)
MARS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MARS	(0.63)	CASK

Citations in the biomedical literature:

Acute infantile liver failure-multisystemic involvement syndrome		X-linked intellectual deficit, Najm type
	Synonym(s): (no synonyms)		Synonym(s): - MICPCH - X-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant

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

X-linked intellectual deficit, Najm type
	Very frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - X-linked dominant inheritance Frequent - Abnormal gait - Broad forehead - Broad nose / nasal bridge - Cataract / lens opacification - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Hypertelorism - Long philtrum - Long / large ear - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Mild visual loss / impaired visual acuity - Myopia - Nystagmus - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Strabismus / squint Occasional - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertonia / spasticity / rigidity / stiffness - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Retinoschisis / retinal / chorioretinal coloboma - Scoliosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
Acute infantile liver failure-multisystemic involvement syndrome
(no data available)