Phenotype #0000210673

Individual ID 00276076
Associated disease NEDMISBA;MCPH15
Phenotype details no premature death; OFC birth 25.5 cm (-6 SDS), OFC 36 cm (-8.9 SDS); global developmental delay; not sitting; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; talipes equinovarus; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite NEDMISBA
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marcello Scala
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marcello Scala
Date created 2020-01-24 17:13:09 +01:00 (CET)
Date last edited 2021-12-17 19:36:20 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.