ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
23 signs/symptoms

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	POMP	(0.49)	IGBP1

Citations in the biomedical literature:

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
	Synonym(s): - KLICK syndrome		Synonym(s): - Graham-Cox syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: x-linked recessive

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

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
	Very frequent - Autosomal dominant inheritance - Ichthyosis / ichthyosiform dermatitis - Palmoplantar hyperkeratosis / keratoderma Frequent - Joint / articular deformation		Very frequent - Anomalies of ear and hearing - Conductive deafness / hearing loss - Corpus callosum / septum pellucidum total / partial agenesis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Nystagmus - Pectus excavatum - Scoliosis - Sensorineural deafness / hearing loss - Short neck - Short stature / dwarfism / nanism - X-linked recessive inheritance Frequent - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of iris - High nasal bridge - High vaulted / narrow palate - Patent ductus arteriosus - Ventricular septal defect / interventricular communication