Phenotype #0000242346

Individual ID 00320333
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy uncomplicated; no neonatal features; length -4SD, OFC 0SD, BMI 30 (92th); severe developmental delay/intellectual disability; 40m-walk; few words; 10y-epilepsy; 9m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness, protruding tongue; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; normal skeletal X-rays; normal skin pigmentation; no umbilical hernia; strabismus; no hearing loss; no recurrent infections
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-11-27 13:30:34 +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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.