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Noonan syndrome-like disorder with loose anagen hair

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.
Mondo Term and Equivalent IDs
MONDO:0011899:  Noonan syndrome-like disorder with loose anagen hair
GARD:0010719: 
MESH:C564342: 
OMIMPS:607721: 
Orphanet:2701: 
SCTID:723444009: 
UMLS:C1843181: 
UMLS:C3501846: