Disease ID | Source | Name | Description |
617506 | OMIM | Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) | A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. The disease is caused by variants affecting the gene represented in this entry. |