Phenotype #0000352842

Individual ID 00467630
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite BBIS
Phenotype details see paper; ..., neurological disorders; global developmental delay, severe learning disability, autistic behaviors, microcephaly, early closure of anterior fontanelle, lack of eye contact, criptorchidism, left equinovarus foot deformity; MRI normal; no cardiac anomalies
Inheritance Familial, autosomal recessive
Age/Examination 9y (9 years)
Age/Diagnosis -
Age/Onset 7m
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2025-10-24 22:46:25 +02:00 (CEST)
Date last edited N/A

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.