Phenotype #0000269378

Individual ID 00374168
Associated disease PHS
Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia
Diagnosis/Initial Pallister–Hall syndrome
Inheritance Familial, autosomal dominant
Diagnosis/Definite PHS
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-24 10:55:07 +02:00 (CEST)
Date last edited N/A

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