Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000016890 Individual ID 00018537 Associated disease SBBYSS Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details failure to thrive, hypotonia, cleft palate, and developmental delay. Round face, bilateral blepharophimosis, ptosis, apparently low-set and short ears with overfolded helix, prominent crus helix and antihelix, stenotic external ear canals, hypertelorism, low nasal bridge, long philtrum, thin lip; vermilion, and dental anomalies. The proximal phalanx of the thumbs was long. No visceral malformation; was detected on ultrasound examinations. She had primary hypothyroidism. Hearing impairment found by auditory steady state responses (ASSR) was mild and she did not require hearing aids. Motor and intellectual; development was severely delayed. IQ 38, severe intellectual disability. Brain MRI revealed delayed myelination and disruption of tracts in the periventricular white matter [Szakszon et al., 2011]. At 4 years, the bony islands of the patellae have not yet appeared, consistent with delayed ossification. Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2013-02-24 16:28:04 +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.