Global Variome shared LOVD

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Phenotype #0000267867 Individual ID 00372553 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details severe developmental delay/intellectual disability; Focal and generalized tonic-clonic seizures (onset at 6 years, treatment-resistant); Generalized hypotonia in the first years, in the second decade hypertonia of the legs; Convergent strabismus, myopia; MRI brain ventriculomegaly, colpocephaly, enlarged cisterna magna, pineal cyst; Frequent falls, progressive ataxia; no microcephaly; Large nose with bulbous nasal tip and low hanging columella; normal philtrum; Wide mouth with square upper lip; Widely spaced teeth; normal chin; synophrys, hypertrichosis; no mesomelic dysplasia; Short and broad feet, bilateral talipes calcaneus, short 1st metatarsal, tapered finger, brachydactyly; Sacral dimple; normal hips and pelvis; horseshoe kidney; Intermittent vomiting; no failure to thrive; Intermittent hyperventilation; Body height >97th percentile between 6 and 12 years. Onset of puberty 11 years. Obesity Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-09 15:58:39 +02:00 (CEST) Date last edited N/A

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