Phenotype #0000174733

Individual ID 00234312
Associated disease ANES
Phenotype details severe intelletual disability; alopecia universalis; height 150 (-3.5 SD); OFC 52.5 (-2.5 SD); dental carries +++; hypodontia/early teeth loss; gynecomastia +++ ; severe kyphoscoliosis; limb contractures + ; motor deterioration +++; upper motor neuron dysfunction +++; no muscle atrophy; penile length 4 cm; Tanner stage 1 (prepubertal); hypogonadotropic hypogonadism; central adrenal insufficiency
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite ANES
Age/Examination 39y (39 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 21:42:19 +02:00 (CEST)
Date last edited N/A

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