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Features include: Type A brachydactyly, Short stature, Cone-shaped epiphyses of the phalanges of the hand, and Broad distal hallux and 5 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 4 | Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Short middle phalanx of finger |
Growth and development | 1 |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center