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- B9ef78604835752b8a3a52c49bbf211c5 hasDbXref "Orphanet:2108" @default.
- B9ef78604835752b8a3a52c49bbf211c5 type Axiom @default.
- B9ef78604835752b8a3a52c49bbf211c5 annotatedProperty IAO_0000115 @default.
- B9ef78604835752b8a3a52c49bbf211c5 annotatedSource MONDO_0009318 @default.
- B9ef78604835752b8a3a52c49bbf211c5 annotatedTarget "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." @default.