Phenotype #0000294038

Individual ID	00400214
Associated disease	CMT
Phenotype details	Bilateral talipes equinovarus (HP:0001776), Motor delay (HP:0001270), Sensorimotor neuropathy (HP:0007141), Vocal cord paralysis (HP:0001605), Bilateral facial weakness (HP:0001349), Dyspnea (HP:0002094), No abnormality of the vestibulocochlear nerve (-HP:0009591), No dysphagia (-HP:0002015), No tongue atrophy (-HP:0012473), Generalized hypotonia (HP:0001290), Areflexia of lower limb (HP:0002522), Reduced tendon reflexes (HP:0001315), Broad-based gait (HP:0002136), Foot dorsiflexor weakness (HP:0009027), No abnormal brainstem MRI signal intensity (-HP:0012747), No abnormality of visual evoked potentials (-HP:0000649), No abnormal auditory evoked potentials (-HP:0006958), Distal upper limb muscle amyotrophy (HP:0007149), Distal upper limb muscle weakness (HP:0008959), Fatiguable weakness of proximal limb muscles (HP:0030200), Restrictive ventilatory defect (HP:0002091), Diaphragmatic weakness (HP:0009113), Hoarse voice (HP:0001609), Distal amyotrophy (HP:0003693), Proximal amyotrophy (HP:0007126), Hand muscle weakness (HP:0030237), Impaired vibration sensation in the lower limbs (HP:0002166), Flexion contracture (HP:0001371), Scoliosis (HP:0002650), Abnormal thorax morphology (HP:0000765), No cognitive impairment (-HP:0100543), No visual impairment (-HP:0000505), No hearing impairment (-HP:0000365)
Diagnosis/Initial	CMT
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT2R
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	00y04m
Phenotype/Onset	Bilateral talipes equinovarus (HP:0001776)
Protein	-
Owner name	Yvet den Hartog
Database submission license
Created by	Yvet den Hartog
Date created	2022-01-25 21:03:10 +01:00 (CET)
Date last edited	2022-01-27 14:18:22 +01:00 (CET)

Global Variome shared LOVD

H1FX (H1 histone family, member X)

Phenotype #0000294038