Global Variome shared LOVD

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Phenotype #0000355531 Individual ID 00470636 Associated disease AHC Phenotype details see paper; ..., 10y-adrenal hypoplasia; birth generalized hyperpigmentation; 14d-salt loss; early childhood developmental delay; multiple episodes of acute adrenal crisis; 10y-height 131.7 cm (–1.21 SD), weigh 38.2 kg (0.64 SD); mild pigmentation oral mucosa/skin; no external genital abnormalities, no micropenis; moderate intellectual disability (IQ48) Diagnosis/Initial adrenal hypoplasia Inheritance Isolated (sporadic) Diagnosis/Definite AHC;MRX21 Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-04 22:15:43 +01:00 (CET) Date last edited N/A

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