ODCs

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1 OMIM reference -
1 associated gene
31 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Oculocerebrofacial syndrome, Kaufman type

Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency

Citations in the biomedical literature:

Oculocerebrofacial syndrome, Kaufman type		Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available 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: unknown

	External references: 1 OMIM reference - 1 MeSH reference: C537013		External references: 1 OMIM reference - No MeSH references

Oculocerebrofacial syndrome, Kaufman type
	Very frequent - Autosomal recessive inheritance - Brachycephaly / flat occiput - Intellectual deficit / mental / psychomotor retardation / learning disability - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Long face - Macrostomia / big mouth - Microcornea - Muscle weakness / flaccidity - Myopia - Narrow face - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Preauricular / branchial tags / appendages - Short philtrum - Strabismus / squint - Telecanthus / canthal dystopy - Thin / retracted lips Occasional - Choroidal anomalies / atrophy / choroideremia - Female pseudohermaphrodism / virilisation / clitoridomegaly
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency
(no data available)