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trigonocephaly-short stature-developmental delay syndrome

Disease Summary
Associated Targets ()

Mondo Description Trigonocephaly-short stature-developmental delay syndrome is characterised by 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 can not be ruled out.
Mondo Term and Equivalent IDs
MONDO:0010749:  trigonocephaly-short stature-developmental delay syndrome
GARD:0000243: 
MESH:C536620: 
Orphanet:3369: 
SCTID:733066002: