Global Variome shared LOVD

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Phenotype #0000014998 Individual ID 00016397 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; no brachytelephalangism/dactyly ; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; premaxillary agenesis, microretrognathism, arhinencephaly, hygroma colli, intestinal malrotation, micropenis, bilateral renal agenesis, iac, ivc, adrenal gland agenesis 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 05:59:53 +02:00 (CEST) Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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