Phenotype #0000124223

Individual ID 00151860
Associated disease CMT
Phenotype details delayed walking, diagnosis infancy, distal weakness affecting hands and forearms, severe distal muscle atrophy, pes cavus and hammer toes, distal sensory loss with decreased sensibility, no scoliosis, absent reflexes lower extremities/present upper
Diagnosis/Initial Charcot-Marie-Tooth disease (CMT)
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT-4H
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 2012-11-05 15:13:21 +01:00 (CET)
Date last edited 2018-01-27 16:57:30 +01:00 (CET)

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