Disease #00614 (MRD20 (mental retardation, autosomal dominant, type 20 (MRD20)), OMIM:613443)

Official abbreviation MRD20
Name mental retardation, autosomal dominant, type 20 (MRD20)
OMIM ID 613443
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene MEF2C
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-06-06 18:59:00 +02:00 (CEST)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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     
00052132 - PubMed: Philip 2003, Journal: Philip 2003 3-generation family, 4 affected males, 2 mildly affected heterozygous carrier females M no France - - - - - MRD20 see paper (other patients); born at term, uneventful pregnancy, birth weight 3450g (50th), birth length 51cm (50th), OFC 36.5cm (90th); 9m-febrile seizures, generalised hypotonia, developmental delay; 11m-sit; 18y-weight 105kg, height 1.82m, OFC 60cm (>98th), facial appearance slightly dysmorphic, deeply set eyes, prominent chin; neurological examination normal, significantly mentally retarded, no autonomy (IQ 46), no reading; MRI-large ventricles without hydrocephalus, blunted appearance angle lateral ventricles, large cisterna magna without abnormality tentorium; female carriers mildly affected OPHN1 OPHN1 1 6 Johan den Dunnen
00270532 102356 - - F ? Italy - - - - - MRD20 HPO: Seizures, Language impairment, Neurodevelopmental delay KCNQ1 KCNQ1 1 1 Andreas Laner
00270535 113100 - - M ? Germany - - - - - MRD20 HPOs: Macrocephaly; Atopic dermatitis; Seizures; Febrile seizures; Abnormal axial skeleton morphology; Abnormality of skin physiology; Abnormality of nervous system physiology KCNQ1 KCNQ1 1 1 Andreas Laner
00270538 154071 - - F ? Greece - - - - - MRD20 HPOs: Delayed speech and language development; Intellectual disability; Seizures; Obesity; Abnormality of hair texture (two uncles ms mental retardation with syndrom. features) KCNQ1 KCNQ1 1 1 Andreas Laner
00270540 121176 - - M ? - - - - - - MRD20 HPOs: Tall stature; Macrocephaly; Abnormality of the skull; Global developmental delay KCNH2 KCNH2 1 1 Andreas Laner
00270543 112883 - - M ? - - - - - - MRD20 HPOs: Olivopontocerebellar hypoplasia; Hypoplasia of the pons SCN5A SCN5A 1 1 Andreas Laner
00270544 150317 - - M ? - - - - - - MRD20 HPos: Autism; Global developmental delay; Absent speech SCN5A SCN5A 1 1 Andreas Laner
00295974 - TBD - F no (Italy) Indian - - - - MRD20 Global developmental delay (severe), intellectual disability, microcephaly, hypotonia (severe) - CAMK2B, EOMES 2 1 Stefano Giuseppe Caraffi
00435321 264023 - - M no Germany - - - - - MRD20 Seizure,Motor delay, Abnormal corpus callosum morphology,Ventricular septal defect, High anterior hairline, Prominent forehead, Neurodevelopmental delay MEF2C MEF2C 1 1 Andreas Laner
00466421 343949 - - M no Germany - - - - - MRD20 Seizure, Failure to thrive, Motor delay, Delayed speech and language development, EEG abnormality, Abnormal liver morphology MEF2C MEF2C 1 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.