Global Variome shared LOVD

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

Phenotype #0000210511 Individual ID 00275912 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-2y6m; fine motor delay; first words-4y; speech sentences; received speech/language therapy; severe verbal apraxia; moderate oral apraxia; moderate receptive and expressive language disorder; mild stuttering disorder. Impaired intelligibility; Borderline intellectual disability (total IQ 72); no autism/autistic features; ADD; very sociable, hyperactive; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; tall and boxy forehead with dimpling; widely spaced eyes; normal teeth; narrow palate; small oral cavity; no neonatal issues; normal vision, wears glasses; ear tubes; normal heart; normal kidneys; Undescended testes; inguinal hernia; no skeletal anomalies, no joint anomalies; 3 cafe au lait spots. Thin and concave toenails. Thin fingernails. Lateral right-side hair whorl. Skin syndactyly of toes (2-3). Inheritance Isolated (sporadic) Age/Examination 17y (17 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 2020-01-20 21:55:37 +01:00 (CET) Date last edited N/A

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