Phenotype #0000104282

Individual ID 00132091
Associated disease MCPH5
Phenotype details birth weight (SD-1.5); OFC (SD-10.6), length (SD-2.2), weight (SD-2.5); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain gyral simplification; corpus callosum hypoplasia; congenital hip dislocation
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Nathalie Pouvreau
Database submission license No license selected
Created by Nathalie Pouvreau
Date created 2017-10-23 14:46:08 +02:00 (CEST)
Date last edited 2023-03-07 17:18:45 +01:00 (CET)

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.