Phenotype #0000174735

Individual ID 00234314
Associated disease ANES
Phenotype details severe intelletual disability; alopecia universalis; height 167 (8); OFC 52 (-2.5 SD); dental carries +++; hypodontia/early teeth loss; gynecomastia + ; moderate kyphoscoliosis; limb contractures ++ ; motor deterioration ++; upper motor neuron dysfunction +++; muscle atrophy; penile length 5 cm; Tanner stage 1 (prepubertal); hypogonadotropic hypogonadism; central adrenal insufficiency; CT brain normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite ANES
Age/Examination 30y (30 years)
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 2019-05-06 21:53:42 +02:00 (CEST)
Date last edited N/A

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