Disease - Baraitser-Winter syndrome 1
- DefinitionA rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.
- AcronymBRWS1
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Browse 1 entry- Actin, cytoplasmic 1 · Gene: ACTB · Homo sapiens (Human) · EC:3.6.4.- · 375 amino acids · Evidence at protein level · Annotation score: 5/5