Phenotype #0000230546

Individual ID 00303466
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDAHM
Phenotype details intellectual disability; 21y-speech only 10 words; normal behaviour; unable to stand-flexion deformity at hips and knees; OFC 3y 46 cm (<0.4th); spastic diplegia and non-ambulant; delayed gross motor development, walk on knees; MRI brain normal; coarse facial features; 2-4 toe cutaneous syndactyly
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-06-12 19:05:40 +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.
  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.