Global Variome shared LOVD

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Phenotype #0000257461 Individual ID 00362048 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details developmental delay; short stature 3 SDs below mean, proportionate; dolichocephaly, prominent forehead and occiput, deep-set eyes; left cryptorchidism, pectus excavatum, tapering fingers, pes planus, shortened great toes; gait ataxia; truncal ataxia; hypotonia; dysarthria; no tremor (postural, intention); no seizures, EEG normal; microcephaly (75th–91st percentile); high-pitched voice; no nystagmus; no saccadic abnormalities; no jerky eye movements; strabismus (esotropia); 2y-stand; 5y8m-walk; 6 years, 6 months; speech 50 words, just putting two words together; special school, intellectual disability (IQ71); no problems reported; MRI brain described as cerebellar cleft or absent vermis, cerebellar atrophy suggested from comparison of scans at ages 1 and 5 years, atrophy of pontine tegmentum Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-15 11:18:09 +02:00 (CEST) Date last edited N/A

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