Phenotypes for disease #05533 (MR;ID (mental retardation (MR, intellectual disability (ID))))

51 entries on 1 page. Showing entries 1 - 51.
Legend   How to query  

AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Owner     
Individual ID     
0000157498 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208889
0000157499 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208890
0000157500 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208891
0000157501 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208892
0000157502 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208893
0000157503 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208894
0000157504 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208895
0000157505 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208896
0000157506 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208897
0000157507 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208898
0000157508 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208899
0000157509 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208900
0000157510 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208901
0000157511 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208902
0000157512 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208903
0000157513 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208904
0000157514 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208905
0000157515 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208906
0000157516 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208907
0000157517 intellecutal disability MRD-49 see paper; … Isolated (sporadic) - - - - Johan den Dunnen 00208908
0000157589 intellectual disability EAOH perinatal history unremarkable, transmitted hypotrophic newborn (weight 2,500 g, length 50 cm, head circumference never measured); inconspicuous infant period; global developmental disorder with expressive language development disorder, suspected mental retardation, autistic behavioral traits, axial hypotension; nonspecific dysmorphic stigmata with prominent forehead, broad nasal root, hypertelorism, epicanthus, deep-seated ears Unknown 05y - - - Johan den Dunnen 00208982
0000157590 intellectual disability EAOH pPerinatal history unremarkable, mature normotrophic newborn (weight 4,000 g, length 53 cm, head circumference 36 cm); inconspicuous infant period; primary developmental disorder with absence of expressive language, moderate mental disability, discrete muscular hypotension, early childhood autism; nonspecific dysmorphic signs with short nose and anteverted nares, small chin, and infraorbital swelling Unknown 07y - - - Johan den Dunnen 00208983
0000157591 intellectual disability EAOH perinatal history: unremarkable, mature normotrophic newborn (weight 3,800 g, length 54 cm, head circumference 35 cm); inconspicuous infant period; primary developmental disorder with emphasis on language deficits; hyperkinetic behavioral disorder, mild to moderate mental retardation and incontinence; nonspecific dysmorphic signs with broad nose and low standing columella, flat philtrum, narrow upper lip, prominent upper jaw region, and hypopigmentation on the abdomen; somatic growth in the range P3–10. Unknown 08y - - - Johan den Dunnen 00208984
0000157622 intellectual disability EIEE-2 Epilepsy, autism spectrum disorder, intellectual disability, and ketotic hypoglycemiaa Familial, X-linked - - - - Johan den Dunnen 00209017
0000157640 intellectual disability EIEE-4 Epilepsy, intellectual disability, and focal cortical dysplasia Familial, autosomal dominant - - - - Johan den Dunnen 00209034
0000157649 non-syndromic intellectual disability MRT-19 mild to moderate ID, no seizures, normal, normal brain MRI Familial, autosomal recessive 39y - - - Johan den Dunnen 00209043
0000157650 non-syndromic intellectual disability MRT-19 mild to moderate ID, no seizures, normal EEG, normal brain MRI Familial, autosomal recessive 41y - - - Johan den Dunnen 00209044
0000157651 intellectual disability MRT-19 profound ID, spasticity, axial hypotonia, dystonia, seizures screaming spells; EEG unprovoked and photic-provoked epileptiform abnormalities; MRI-brain pontine hypoplasia Familial, autosomal recessive 11y - - - Johan den Dunnen 00209045
0000157652 intellectual disability MRT-19 profound ID, spasticity, axial hypotonia, choreoathetosis, seizures screaming spells; EEG disorganized slow background, bilateral frontal epileptiform abnormalities; MRI-brain pontine hypoplasia, thin corpus callosum, temporal lobe hypomyelination Familial, autosomal recessive 05y - - - Johan den Dunnen 00209046
0000159656 intellectual disability - height 140cm (<3.9SD), weight 37kg (-3.6SD), head circumference 50cm (-4.0 SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, hypodontia, no conical shaped teeth Familial, autosomal recessive 18y - - - Johan den Dunnen 00211173
0000159657 intellectual disability - height 137cm (-3.5SD), weight 29.5kg (-3.2SD), head circumference 49cm (-3.6SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, no hypodontia, no conical shaped teeth Familial, autosomal recessive 14y - - - Johan den Dunnen 00211174
0000159658 intellectual disability - moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures Familial, autosomal recessive 07y - - - Johan den Dunnen 00211175
0000159659 intellectual disability - height 104cm (-4.0SD), head circumference 46.5cm (-4.5SD), moderate intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth, hepatomegaly; MRI brain generalized atrophy, enlargement of ventricles Familial, autosomal recessive 08y - - - Johan den Dunnen 00211176
0000159660 intellectual disability - height 80cm (-2.2SD), head circumference 46cm (-2.5SD), moderate intellectual disability, motor delay, speech delay, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth Familial, autosomal recessive 02y - - - Johan den Dunnen 00211177
0000159661 intellectual disability - height 95.5cm (-2.2SD), weight 11.5kg (-3.0SD), head circumference 46.3cm (-2.5SD), intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips, everted lower lip, hypodontia, conical shaped teeth; MRI brain normal Familial, autosomal recessive 03y03m - - - Johan den Dunnen 00211178
0000239938 - - Global developmental delay; stereotypy; recurrent fever Isolated (sporadic) 02y - - - Emanuela Leonardi 00316191
0000239941 - - Language impairment; Mild Intellectual Disability Isolated (sporadic) 03y - - - Emanuela Leonardi 00316194
0000239942 - - Psychiatric disorder, Moderate Intellectual Disability Isolated (sporadic) 17y - - - Emanuela Leonardi 00316195
0000239943 - - Language impairment, Severe expressive language delay, poor motor coordination Isolated (sporadic) 03y - - - Emanuela Leonardi 00316196
0000239944 - - Autism, Language impairment, Absent speech Isolated (sporadic) 02y - - - Emanuela Leonardi 00316197
0000239945 - - Autism Familial 03y - - - Emanuela Leonardi 00316198
0000249506 - - (+) Cryptorchidism,(+) Hypertelorism,(+) High forehead,(+) Downslanted palpebral fissures,(+) Delayed speech and language development,(+) Single transverse palmar crease,(+) Global developmental delay Unknown 01y - - - Andreas Laner 00331314
0000286160 - - Autism, Absent speech, Delayed speech and language development Isolated (sporadic) 02y - - - Andreas Laner 00392919
0000301094 - mental retardation (MR, intellectual disability (ID)) delayed language development; mild-moderate mental retardation Familial, autosomal recessive - - - - LOVD 00408976
0000301095 - mental retardation (MR, intellectual disability (ID)) delayed language development; mild-moderate mental retardation Familial, autosomal recessive - - - - LOVD 00408977
0000301096 - mental retardation (MR, intellectual disability (ID)) delayed language development; mild-moderate mental retardation Familial, autosomal recessive - - - - LOVD 00408978
0000301097 - mental retardation (MR, intellectual disability (ID)) delayed language development; mild-moderate mental retardation Familial, autosomal recessive - - - - LOVD 00408979
0000301098 - mental retardation (MR, intellectual disability (ID)) delayed language development; mild-moderate mental retardation Familial, autosomal recessive - - - - LOVD 00408980
0000337678 - NEDEGE Autistic behavior, Absent speech, Abnormal repetitive mannerisms, Reduced eye contact, seizures Unknown 03y - - - Andreas Laner 00448490
0000351786 intellectual disability MRD66 Delayed speech and language development, Neurodevelopmental delay, Atypical behavior, Preauricular skin tag, Restlessness, Short attention span, Sensory seeking Isolated (sporadic) 07y - - - Andreas Laner 00466404
0000352680 - - Neurodevelopmental delay, Delayed speech and language development, Abnormality of mental function, Reduced attention regulation, Pectus carinatum Isolated (sporadic) 04y - - - Andreas Laner 00467473
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.