Global Variome shared LOVD

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

Phenotype #0000257458 Individual ID 00362045 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details intellectual disability; motor developmental delay; speech delay; wide-based bent knee, dystonic gait; hypotonia as infant, dystonia now; MRI brain normal; long face; deep philtrum; tall forehead; high nasal bridge; no straight eyebrows; strabismus; normal ears; prominent chin; facial asymmetry, submucous cleft palate; complete (right) and partial (left) syndactyly of the second and third toes, limited facial expression, neurogenic bladder (vesicostomy), feeding difficulties, swallowing of semisolid food only, mild scoliosis, dysplastic right kidney, bilateral vesicoureteric reflux, megacolon with intractable constipation, severe hip and knee contractures 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.