Phenotype #0000014995

Individual ID	00016394
Associated disease	PHS
Phenotype details	growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; no lung dysplasia; agnathia, hypoplastic maxillary, absence of oral orifice, bilateral choanal atresia, oligosyndactyly, arthrogryposis, mesomelia bilateral radio-ulnar bowing, absence of tibia and fibula, bilateral renal agenesis, pituitary gland agenesis, adrenal agenesis, uterovaginal aplasia, atrioventricular communication, corpus callosum agenesis, microcephaly
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 05:49:10 +02:00 (CEST)
Date last edited	2021-05-24 10:16:24 +02:00 (CEST)

Global Variome shared LOVD