Disease #00614

Official abbreviation -
Name mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
OMIM ID 613443
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene MEF2C
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00052132 - PubMed: Philip 2003, Journal: Philip 2003 3-generation family, 4 affected males, 2 mildly affected heterozygous carrier females M no France - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 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 - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations HPO: Seizures, Language impairment, Neurodevelopmental delay KCNQ1 KCNQ1 1 1 Andreas Laner
00270535 113100 - - M ? Germany - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 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 - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 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 ? ? (unknown) - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations HPOs: Tall stature; Macrocephaly; Abnormality of the skull; Global developmental delay KCNH2 KCNH2 1 1 Andreas Laner
00270543 112883 - - M ? ? (unknown) - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations HPOs: Olivopontocerebellar hypoplasia; Hypoplasia of the pons SCN5A SCN5A 1 1 Andreas Laner
00270544 150317 - - M ? ? (unknown) - - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations HPos: Autism; Global developmental delay; Absent speech SCN5A SCN5A 1 1 Andreas Laner
00295974 - TBD - F no (Italy) Indian - 0 - - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Global developmental delay (severe), intellectual disability, microcephaly, hypotonia (severe) - CAMK2B, EOMES 2 1 Stefano Giuseppe Caraffi
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