Term Name: | Noonan syndrome-like disorder with loose anagen hair |
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Synonyms: | |
Definition: | A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. |
Ontology: | Human Disease [DOID:0080691] ( DOID:0080691 ) |