Global Variome shared LOVD

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Phenotype #0000014993 Individual ID 00016392 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; intellectual disability; nail dysplasia; seizures, panhypopituitarism, developmental sexual disorder (karyotype 46xy, testis with an undeveloped genital tubercle), renal hypoplasia Diagnosis/Initial Pallister–Hall syndrome Inheritance Isolated (sporadic) Diagnosis/Definite PHS Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tania Attie-Bitach Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Tania Attie-Bitach Date created 2014-04-02 05:41:18 +02:00 (CEST) Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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