Global Variome shared LOVD

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Phenotype #0000014996 Individual ID 00016395 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; no cardiac anomalies; renal anomalies; no genital anomalies; lung dysplasia; posterior cleft palate, micrognathia, micromelia, oligosyndactyly, club feet, adrenal gland hypoplasia, bilateral renal agenesis, anteposed anus 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 No license selected Created by Tania Attie-Bitach Date created 2014-04-02 05:52:32 +02:00 (CEST) Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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