Phenotype #0000014988

Individual ID 00016388
Associated disease PHS
Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; anal atresia; cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; no nail dysplasia; micropenis, choanal atresia, interventricular communication, fine DD
Diagnosis/Initial Pallister–Hall syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite PHS
Age/Examination 05y09m (5 years, 9 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 05:17:46 +02:00 (CEST)
Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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