Disease #05532 (MRD (mental retardation, autosomal dominant (MRD, intellectual disability (IDD))))

Official abbreviation MRD
Name mental retardation, autosomal dominant (MRD, intellectual disability (IDD))
OMIM ID -
Inheritance -
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 5 genes CAMK2A, CIC, CTCF, KCNQ5, NUS1
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2018-12-18 09:20:18 +01:00 (CET)
Date last edited 2018-12-18 09:24:21 +01:00 (CET)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00320351 171106 - - M ? Germany - - - - - MRD (+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Neurodevelopmental delay ADNP ADNP 1 1 Andreas Laner
00334867 PME1 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - MRD Onset age 13 of frequent rest and action myoclonus, on background of mild learning difficulties. No seizures or ataxia. Normal cognition. - NUS1 1 1 Carolina Courage
00334873 PME2 PubMed: Courage 2021, Journal: Courage 2021 - F no Italy - - - - - MRD Onset age 4 of febrile seizure and subsequent developmental regression. Daily absence seizures, associated with eyelid myoclonus from 4 years of age and upper limb myoclonus at 8 years of age. Stable ataxia, moderate cognitive decline noted. MRI: cerebellar atrophy. - NUS1 1 1 Carolina Courage
00334919 175865 - - F ? Germany - - - - - MRD (+) Behavioral abnormality,(+) Delayed speech and language development,(+) Hyperactivity,(+) Constipation,(+) Attention deficit hyperactivity disorder,(+) Abnormal social behavior; brother also affected, not tested yet HIVEP2 HIVEP2 1 1 Andreas Laner
00361924 151741 - - F ? Germany - - - - - MRD (+) Dolichocephaly,(+) Low-set ears,(+) Strabismus,(+) Delayed speech and language development,(+) Muscular hypotonia,(+) Global developmental delay,(+) Abnormal foot morphology,(+) Pes planus,(+) Expressive language delay,(+) Pes valgus,(+) Receptive language delay,(+) Splayed toes,(+) Wide nasal base,(+) Exodeviation GATAD2B GATAD2B 1 1 Andreas Laner
00373713 iw071 - - F no China Chinese - - - - MRD HP:0001249; HP:0001263; HP:0000639; HP:0008070; HP:0025119 GNB1 GNB1 1 1 Wenjuan Qiu
00375566 179723 - - M ? Turkey - - - - - MRD (+) Inguinal hernia,(+) Abnormality of prenatal development or birth,(+) Hypotonia,(+) Global developmental delay,(+) Premature birth,(+) EEG abnormality,(+) Abnormal muscle tone,(+) Hernia of the abdominal wall,(+) Neurodevelopmental delay,(+) Abnormality of central nervous system electrophysiology FOXP1 FOXP1 1 1 Andreas Laner
00381101 183041 - - F - - - - - - - MRD Delayed speech and language development, Autistic behavior, Attention deficit hyperactivity disorder, Precocious puberty, Stereotypy, Global developmental delay PHIP PHIP 1 1 Andreas Laner
00390641 186648 - - F no Germany - - - - - MRD Thick lower lip vermilion, Flared nostrils, Hyperopic astigmatism, Strabismus, Deeply set eye, Thick eyebrow, Stereotypy, Global developmental delay, Absent speech, Localized hirsutism, Thickened ears, Delayed ability to walk, Recurrent hand flapping HIVEP2 HIVEP2 1 1 Andreas Laner
00452805 299829 - - F no Germany - - - - - MRD 2-3 toe syndactyly, Attention deficit hyperactivity disorder, Abnormal CNS myelination, Focal-onset seizure, Porencephalic cyst, Intellectual disability, mild SRRM2 - - 1 Andreas Laner
00454566 304705 - - M no Germany - - - - - MRD Short stature, Microcephaly, Selective mutism ANKRD17 ANKRD17 1 1 Andreas Laner
00466431 343818 - - M no ? (unknown) - - - - - MRD Hypotonia, Delayed gross motor development, Abnormality of connective tissue, Joint hypermobility, Delayed speech and language development SETD1A SETD1A 1 1 Andreas Laner
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