Global Variome shared LOVD

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Phenotype #0000293261 Individual ID 00400221 Associated disease CMT4A Phenotype details Skeletal muscle atrophy (HP:0003202), Abnormal bone ossification (HP:0011849), No abnormal bone structure (-HP:0003330), Ankle flexion contracture (HP:0006466), Pes cavus (HP:0001761), Muscle weakness (HP:0001324), Bilateral talipes equinovarus (HP:0001776), Abnormality of the wrist (HP:0003019), Joint contracture of the hand (HP:0009473), Contracture involving the joints of the feet (HP:0008366), No poor speech (-HP:0002465), No hearing abnormality (-HP:0000364), No abnormality of vision (-HP:0000504), No intellectual disability (-HP:0001249), Poor gross motor coordination (HP:0007015), Somatic sensory dysfunction (HP:0003474), Peripheral neuropathy (HP:0009830), Reduced bone mineral density (HP:0004349), No skeletal dysplasia (HP:0002652), Gait disturbance (HP:0001288) Diagnosis/Initial CMT Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4A Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset 05y Phenotype/Onset Gait disturbance (HP:0001288) Protein - Owner name Yvet den Hartog Database submission license Creative Commons Attribution 4.0 International Created by Yvet den Hartog Date created 2022-01-26 13:04:57 +01:00 (CET) Date last edited 2022-01-31 14:33:55 +01:00 (CET)

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