Disease #00790 (CSS2;MRD14 (Coffin-Siris syndrome, type 2), OMIM:614607)

Official abbreviation CSS2;MRD14
Name Coffin-Siris syndrome, type 2
OMIM ID 614607
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ARID1A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-05-30 12:52:48 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00403053 192173 - - F no Germany - - - - - CSS2;MRD14 Posteriorly rotated ears, Intellectual disability, mild, Facial asymmetry, High palate, Epicanthus, Abnormality of the hand, Wide nose, Delayed CNS myelination ARID1A ARID1A 1 1 Andreas Laner
00410468 - - - F no Mexico - - - - - CSS2;MRD14 growth delay, short stature, generalized hypotonia, abnormality of the nervous system, global developmental delay, delayed speech and language development, seizures, abnormal corpus callosum morphology, abnormal posterior cranial fossa morphology, Dandy-Walker malformation, cerebellum hypoplasia, posterior pituitary dysgenesis, atrial septal defect, pulmonary venous hypertension, abnormal carotid artery morphology, abnormality of the digestive system, feeding difficulties, poor suck, abnormality of the gastrointestinal tract, gastroesophageal reflux, chronic constipation, intestinal obstruction, abnormality of the vertebral column, joint laxity, coarse facial features, low anterior hairline, ptosis, strabismus, depressed nasal bridge, wide nose, anteverted nares, thick nasal alae, broad philtrum, thick vermillon border, delayed eruption of teeth, high palate, prominent eyelashes, thick eyebrow, hypertrichosis, small nail, sparse scalp hair, hepatoblastoma - ARID1A 1 1 Eugenio Zapata-Aldana
Legend   How to query  

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.