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Brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability

MedGen UID:
462240
•Concept ID:
C3150890
•
Disease or Syndrome
Synonyms: Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation; Tsukahara Syndrome
SNOMED CT: Radioulnar synostosis with microcephaly and scoliosis syndrome (719162001); Giuffre Tsukahara syndrome (719162001); Tsukahara syndrome (719162001)
 
Monarch Initiative: MONDO:0013332
OMIM®: 613627

Definition

An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. [from SNOMEDCT_US]

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