Global Variome shared LOVD

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Phenotype #0000014997 Individual ID 00016396 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; nail dysplasia; bilateral choanal atresia, retrognathia, posterior cleft palate, ear dysplasia, cervical chondroma, syndactyly, adrenal and pituitary gland agenesis, micropenis, unilateral renal agenesis, abnormal aortic arch 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 05:56:17 +02:00 (CEST) Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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