Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000174737 Individual ID 00234316 Associated disease ANES Phenotype details severe intelletual disability; alopecia universalis; height 148 (-3.5 SD); OFC 49.8 (-3 SD); dental carries +++; hypodontia/early teeth loss; no gynecomastia; moderate kyphoscoliosis; limb contractures ++ ; motor deterioration ++; upper motor neuron dysfunction +++; muscle atrophy; penile length 4 cm; Tanner stage 1 (prepubertal); hypogonadotropic hypogonadism; central adrenal insufficiency; CT brain normal; MRI brain hypoplastic pituitary Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite ANES Age/Examination 20y (20 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 2019-05-06 21:53:42 +02:00 (CEST) Date last edited N/A

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