Global Variome shared LOVD

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Phenotype #0000014983 Individual ID 00016383 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; genital anomalies; no lung dysplasia; no intellectual disability; micropenis, thin corpus callosum Diagnosis/Initial Pallister–Hall syndrome Inheritance Isolated (sporadic) Diagnosis/Definite PHS Age/Examination 00y14m (14 months) 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 04:39:14 +02:00 (CEST) Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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