Phenotype #0000015000

Individual ID 00016399
Associated disease PHS
Phenotype details growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; nail dysplasia; limited ankle mobility, syndactyly, hypopituitarism, micropenis, hypospadias, speech delay, gelastic seizures
Diagnosis/Initial Pallister–Hall syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite PHS
Age/Examination 00y11m (11 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 06:05:47 +02:00 (CEST)
Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

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