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Items: 2

1.

Syndromic X-linked intellectual disability Claes-Jensen type

Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020). [from OMIM]

MedGen UID:
335139
Concept ID:
C1845243
Disease or Syndrome
2.

Talipes calcaneovarus

A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. [from HPO]

MedGen UID:
120552
Concept ID:
C0265646
Congenital Abnormality

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