Phenotype #0000323866

Individual ID 00433345
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly, short stature; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal
Inheritance Familial, autosomal recessive
Age/Examination 9y (9 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 2023-03-06 14:23:39 +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.