ODCs

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1 OMIM reference -
1 associated gene
5 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Lissencephaly type 1 due to doublecortin gene mutation

Retinopathy - anemia- central nervous system anomalies


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DCX	(0.63)	TINF2

Citations in the biomedical literature:

Lissencephaly type 1 due to doublecortin gene mutation		Retinopathy - anemia- central nervous system anomalies
	Synonym(s): - X-linked lissencephaly type 1		Synonym(s): - Revesz-DeBuse syndrome

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

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

	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: (no data available)

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

Lissencephaly type 1 due to doublecortin gene mutation		Retinopathy - anemia- central nervous system anomalies
	Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertonia / spasticity / rigidity / stiffness - Hypotonia		Very frequent - Anaemia - Anomalies of tongue, gingiva and oral mucosa - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Fine hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intrauterine growth retardation - Microcephaly - Nails anomalies - Platelets shape anomalies - Polynuclear cells / neutrophils anomalies / neutropenia - Prematurity - Purpura / petichiae - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia - Thrombocytopenia / thrombopenia