Synonym(s): (no synonyms)
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
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		External references: 1 OMIM reference - See 1 MeSH reference: C537013
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
UBE3B	Q7Z3V4	608047

- 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

- 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

- Choroidal anomalies / atrophy / choroideremia
- Female pseudohermaphrodism / virilisation / clitoridomegaly