Phenotype #0000319108

Individual ID 00428196
Associated disease CPHD
Diagnosis/Initial growth retardation
Diagnosis/Definite -
Phenotype details see paper; ..., 1d-micropenis, cryptorchidism; severe growth retardation, complete deficit in all but one (ACTH) anterior pituitary hormone, elevated/anteverted shoulders, stubby neck, severe restriction of rotation cervical spine; extreme mental retardation; deaf, no acoustic evoked potential
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-12-23 15:38:27 +01:00 (CET)
Date last edited 2022-12-24 12:19:02 +01:00 (CET)

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