Phenotype #0000319127

Individual ID 00428215
Associated disease CPHD
Diagnosis/Initial hypoglycemia
Diagnosis/Definite CPHD3
Phenotype details see paper; ..., birth 39w, weight 3,930g, length 50cm respectively, short neck with limited rotation; 4d-respiratory failure, mechanical ventilation; <1w-recurrent hypoglycemia, normal ACTH, normal cortisol, growth hormone undetectable, IGF-1/IGF-BP3 below the detection; sensorineural hearing loss
Inheritance Familial, autosomal recessive
Age/Examination 01y06m (1 year, 6 months)
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 2022-12-24 13:43:20 +01:00 (CET)
Date last edited N/A

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