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Results: 2

1.

Pollitt's syndrome

Trichorrhexis nodosa, psychomotor retardation, and microcephaly in association with hair deficient in high-sulfur proteins. [from MCA/MR]

MedGen UID:
272036
Concept ID:
C1313961
Disease or Syndrome
2.

Sabinas brittle hair syndrome

The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see 234050), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. Ocular dysplasias are sometimes present and dentition is normal (Howell et al., 1980). [from OMIM]

MedGen UID:
163238
Concept ID:
C0796271
Disease or Syndrome

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