Disease #01701 (CFSMR (Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome), OMIM:213980)

Official abbreviation CFSMR
Name Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
OMIM ID 213980
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene TMCO1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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     
00409558 K6286 PubMed: Oishi 2018 - F - Japan - - - - - CFSMR best corrected visual acuity: 0.6; electroretinogram , rod: non- recordable, cone: severely reduced CYP4V2 CYP4V2 1 1 LOVD
00419211 Pat1 PubMed: Abdelrazek 2023 family, 1 affected F yes Egypt - - - - - CFSMR see paper; ..., birth weight 3750g (+1.4SD); global developmental delay, hypotonia, hearing loss; 1y2m-sat unsupported, able to stand up with support, able to grasp and transfer objects between hands and throw things on floor; spoke about five words; visually alert, socially awake, friendly demeanor; hypertrichosis, macrocephaly, brachycephaly, plagiocephaly, dysmorphic facial features (frontal bossing, receding frontal hairline with frontal upsweep, long, straight and bushy eyebrows, synophrys, long eyelashes, wide nasal bridge, short nose with upturned tip, deep and long philtrum, small mouth with thin upper lip, large protruding tongue, low-set ears; short neck with low posterior hairline, prominent interdigital folds, joint laxity, diastasis recti; 22-OFC increased (50.5cm, +2.6SD), length 87 cm (+0.87SD), weight 11.9kg (+0.13SD) within normal range - TMCO1 1 1 Tess Holling
00419212 Pat2 PubMed: Abdelrazek 2023 family, 1 affected M - Egypt - - - - - CFSMR see paper; ..., birth weight was 2.5kg (−1.9SD), polyhydramnios; delayed development, not able to sit alone, could partially hold his neck, delayed speech and language development; hypotonia, facial dysmorphism (brachycephaly, prominent forehead with hirsutism, frontal upsweep, blue sclera, hypertelorism, long eyelashes and bushy, highly arched eyebrows with synophrys, wide nasal bridge, short nasal ridge, short columella, long and narrow philtrum, low-set ears); pectus carinatum, widely spaced nipples; camptodactyly right 3rd and 4th fingers and left 3rd finger, bilateral clinodactyly 5th fingers, bilateral syndactyly 2nd and 3rd toes; 13m-growth parameters within the normal range, OFC 44cm (−1.81SD), length 78cm (+0.42SD), weight8.5kg (−2SD); similarly affected older male sib, similar facial dysmorphism, hydrocephalus, cleft lip and palate, 3m-died TMCO1 TMCO1 1 1 Tess Holling
00451720 299336 - - M yes Turkey - - - - - CFSMR - - - - 1 Andreas Laner
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.