Phenotype #0000174734

Individual ID 00234313
Associated disease ANES
Phenotype details moderate intelletual disability; sparse hair trunk, axilla; height 166 (7); OFC 55 (40); dental carries ++; no hypodontia/early teeth loss; gynecomastia +++ ; no kyphoscoliosis; no limb contractures; motor deterioration +/-; upper motor neuron dysfunction +/-; no muscle atrophy; penile length 8 cm; Tanner stage 3-4; hypogonadotropic hypogonadism; central adrenal insufficiency
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite ANES
Age/Examination 36y (36 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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