Phenotype #0000290776

Individual ID	00397490
Associated disease	CMT
Phenotype details	see paper; born at term, uneventful pregnancy, normal fetal movements, normal delivery; birth weight, length, head circumference normal; no motor delay (-HP:0001270), 14m-walk, mild ataxia (HP:0001251); 5y-walk tip toes (HP:0030051); no intellectual disability (-HP:0001256), bilateral steppage gait (HP:0003376), symmetrical atrophy intrinsic hand muscles (HP:0008954), muscular atrophy below knees (HP:0008944), pes cavus (HP:0001761), slightly diminished distal muscle strength upper and lower limbs; no osteotendinous reflexes (HP:0001315); normal cranial nerve; no scoliosis (-HP:0002650), no ocular signs, no internal organ anomalies, ...
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Unknown
Diagnosis/Definite	CMT4H
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	05y
Phenotype/Onset	ataxia (HP:0001251)
Protein	-
Owner name	Sarah El-Bestawi
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-27 14:52:16 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD