Phenotype #0000330243

Individual ID 00047975
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite CSS1
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., moderate developmental delay; delayed speech; 20m-walk; no muscular hypotonia; MRI brain nromal; no seizures; no hearing loss; no heart malformation; no cleft palate; brachycephaly; low-set and/or posteriorly rotated ears; abnormally shaped ears; no downslanting palpebral fissures; no strabism; no bulbous nasal tip; thin upper lip; no retro/micrognathia; single palmar creases, clinodactyly V, deep set thumbs, Hallux valgus; unilateral myopia, blocked nasolacrimal duct, dermoid cyst, atlanto/occipital abnormalities, discreet rhizomelic shortening of arms and legs, scoliosis, cryptorchism
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2023-11-01 17:17:04 +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.