Global Variome shared LOVD

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Phenotype #0000014991 Individual ID 00016390 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; scoliosis, dental malposition Diagnosis/Initial Pallister–Hall syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite PHS Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tania Attie-Bitach Database submission license No license selected Created by Tania Attie-Bitach Date created 2014-04-02 05:28:27 +02:00 (CEST) Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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