Global Variome shared LOVD

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Phenotype #0000232769 Individual ID 00306949 Associated disease CMT Phenotype details height SD -2.12, weight SD -0.67, OFC SD -2.24; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; no endocrine anomalies; mild diffuse hypotonia, hyporeflexia, possible mild muscle weakness, intention tremor of upper extremities, intermittent exotropia, slow gait with trace circumduction at left hip; 4y-normal electromyogram, normal nerve conduction study; MRI brain lesions of the periaqueductal gray matter, thalami, substantia nigra, and geniculocalcarine tract at 17 months; periaqueductal gray matter lesions had resolved by age 4 years, whereas other lesions remained stable; pectus excavatum, fifth finger clinodactyly, broad great toes, cutis marmorata, 7y-subtle retinal pigmentary changes Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite DIGFAN Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-24 12:53:42 +02:00 (CEST) Date last edited 2023-12-04 21:38:17 +01:00 (CET)

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