Phenotype #0000174736

Individual ID 00234315
Associated disease ANES
Phenotype details moderate intelletual disability; partial alopecia; height 169 (10); OFC 53.5 (5); dental carries +++; no hypodontia/early teeth loss; gynecomastia ++ ; moderate kyphoscoliosis; limb contractures +++ ; motor deterioration ++; upper motor neuron dysfunction ++; muscle atrophy; penile length 9.5 cm; Tanner stage 3; hypogonadotropic hypogonadism; central adrenal insufficiency; CT brain normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite ANES
Age/Examination 27y (27 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.