Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000041513 Individual ID 00054837 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details mild ID (IQ65); speech delay; motor delay; concentration problems; oral hypotonia; hypotonia; toe walking; unexplained reduced vision; strabismus; recurrent respiratory infections; asthma; brachydactyly fingers; pedes plano valgi; fetal finger pads; sandal gap; simian crease; neonatal feeding difficulties; fever convulsions; fatiguel phimosis; hypertrichosis back; MRI/CT: megacisterna magna; muscle biopsy: low mitochondrial activity; born after 40+5w of gestation with normal birth weight; mild intellectual disability (HP:0001256); speech delay (HP:0000750) Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lisenka Vissers Database submission license No license selected Created by Lisenka Vissers Date created 2015-11-27 14:21:56 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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