DISEASES

Disease-gene associations mined from literature

Human genes for Noonan syndrome-like disorder with loose anagen hair

Noonan syndrome-like disorder with loose anagen hair [DOID:0080691]

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.

Synonyms:  Noonan syndrome-like disorder with loose anagen hair,  DOID:0080691,  Noonan syndromelike disorder with loose anagen hair,  Noonan syndrome-like disorder with loose anagen hairs