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Items: 2

1.

Syndromic mental retardation, Nascimento type, X-linked

The Nascimento type of X-linked syndromic mental retardation is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female carriers have normal cognition, but may show subtle facial features (summary by Budny et al., 2010). [from OMIM]

MedGen UID:
477095
Concept ID:
C3275464
Disease or Syndrome
2.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, UBE2A-RELATED

MedGen UID:
326484
Concept ID:
C1839411
Disease or Syndrome

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