Phenotypes for disease #05532 (MRD (mental retardation, autosomal dominant (MRD, intellectual disability (IDD))))

12 entries on 1 page. Showing entries 1 - 12.
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AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Owner     
Individual ID     
0000242364 - - (+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Neurodevelopmental delay Unknown 01y - - - Andreas Laner 00320351
0000252690 - - (+) Behavioral abnormality,(+) Delayed speech and language development,(+) Hyperactivity,(+) Constipation,(+) Attention deficit hyperactivity disorder,(+) Abnormal social behavior; brother also affected, not tested yet Unknown 04y - - - Andreas Laner 00334919
0000252757 Unverricht-Lundborg disease like MRD55 Onset age 13 of frequent rest and action myoclonus, on background of mild learning difficulties. No seizures or ataxia. Normal cognition. Isolated (sporadic) - - - - Carolina Courage 00334867
0000252758 progressive myoclonus epilepsy , dementia MRD55 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. Isolated (sporadic) - - - - Carolina Courage 00334873
0000257321 - GAND (+) 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 Unknown 01y - - - Andreas Laner 00361924
0000268938 - Mental retardation, autosomal dominant 42 (OMIM 616973) HP:0001249; HP:0001263; HP:0000639; HP:0008070; HP:0025119 Familial, autosomal dominant - - - - Wenjuan Qiu 00373713
0000270780 - MRLIAF (+) 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 Unknown - 03y - - Andreas Laner 00375566
0000274952 - CHUJANS Delayed speech and language development, Autistic behavior, Attention deficit hyperactivity disorder, Precocious puberty, Stereotypy, Global developmental delay Isolated (sporadic) 07y - - - Andreas Laner 00381101
0000284177 - - 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 Isolated (sporadic) 14y - - - Andreas Laner 00390641
0000341365 - - 2-3 toe syndactyly, Attention deficit hyperactivity disorder, Abnormal CNS myelination, Focal-onset seizure, Porencephalic cyst, Intellectual disability, mild Unknown 09y - - - Andreas Laner 00452805
0000343213 - CAGS Short stature, Microcephaly, Selective mutism Unknown 03y - - - Andreas Laner 00454566
0000351794 intellectual disability NEDSID Hypotonia, Delayed gross motor development, Abnormality of connective tissue, Joint hypermobility, Delayed speech and language development Isolated (sporadic) 02y - - - Andreas Laner 00466431
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