Phenotype #0000294039

Individual ID	00400911
Associated disease	CMT
Phenotype details	Sensorimotor neuropathy (HP:0007141), No decreased nerve conduction velocity (-HP:0000762), Abnormal single motor unit action potential (HP:0033767), No abnormal brainstem MRI signalintesity (-HP:0012747), No abnormality of the vertebral column (-HP:0000925), Distal upper limb muscle weakness (HP:0008959), Split hand (HP:0001171), Lagopthalmos (HP:0030001), Dyspnea (HP:0002094), Dysphagia (HP:0002015), Stridor (HP:0010307), Nasal speech (HP:0001611), Tongue fasciculations (HP:0001308), Movement abnormality of the tongue (HP:0000182), Hand muscle weakness (HP:0030237), Axial weakness (HP:0003327), Foot dorsiflexor weakness (HP:0009027), Limited knee flexion (HP:0006389), Pelvic organ prolapse (HP:0031607), Inability to walk (HP:0002540), Impaired vibration sensation in the lower limbs (HP:0002166), No abnormality of pain sensation (-HP:0010832), No impaired temperature sensation (-HP:0010829), Abnormal peripheral nervous system morphology (HP:0000759), Abnormal cranial nerve morphology (HP:0001291), Reduced forced vital capacity (HP:0032341), Apnea (HP:0002104), Bilateral talipes equinovarus (HP:0001776), Motor delay (HP:0001270), Vocal cord paralysis (HP:00010605), Bilateral facial weakness (HP:0001349), Dyspnea (HP:0002094), Abnormality of the vestibulocochlear nerve (HP:0009591), Dysphagia (HP:0002015), Tongue atrophy (HP:0012473), Decreased amplitude of sensory action potentials (HP:0007078)
Diagnosis/Initial	CMT
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT2R
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	Bilateral talipes equinovarus (HP:0001776)
Protein	-
Owner name	Yvet den Hartog
Database submission license
Created by	Yvet den Hartog
Date created	2022-01-26 17:17:58 +01:00 (CET)
Date last edited	2022-01-27 14:25:04 +01:00 (CET)

Global Variome shared LOVD

SOX8 (SRY (sex determining region Y)-box 8)

Phenotype #0000294039