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1.

Short stature and microcephaly with genital anomalies

Short stature and microcephaly with genital anomalies (SSMGA) is characterized by severe growth failure, with extreme short stature, microcephaly, and delayed and dissociated bone age. Global psychomotor developmental delay may be present, although the brain appears structurally normal. Pubertal delay and genital anomalies have been observed (Hung et al., 2017). [from OMIM]

MedGen UID:
1684791
Concept ID:
C5231467
Disease or Syndrome
2.

Dysharmonic delayed bone age

A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. [from HPO]

MedGen UID:
395264
Concept ID:
C1859444
Finding

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