Phenotype #0000355115

Individual ID 00469970
Associated disease ?
Diagnosis/Initial congenital ocular-motor apraxia
Diagnosis/Definite -
Phenotype details infantile hypotonia; abnormal breathing; 9m-sit; 21m-walk; no speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; no intellectual disability; Type I laryngeal cleft, aplasia cutis, cafè au lait spots; MRI brain no superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; no displaced fastigium
Inheritance Unknown
Age/Examination 05y-10y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Valentina Serpieri
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-08-22 15:57:28 +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.