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Items: 2

1.

Trigonocephaly-short stature-developmental delay syndrome

Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out. [from SNOMEDCT_US]

MedGen UID:
374138
Concept ID:
C1839125
Disease or Syndrome
2.

Premature posterior fontanelle closure

MedGen UID:
326407
Concept ID:
C1839126
Finding

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