Phenotype #0000014993

Individual ID 00016392
Associated disease PHS
Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; intellectual disability; nail dysplasia; seizures, panhypopituitarism, developmental sexual disorder (karyotype 46xy, testis with an undeveloped genital tubercle), renal hypoplasia
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 05:41:18 +02:00 (CEST)
Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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