Global Variome shared LOVD

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Phenotype #0000269378 Individual ID 00374168 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia Diagnosis/Initial Pallister–Hall syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite PHS Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-24 10:55:07 +02:00 (CEST) Date last edited N/A

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