Intellectual disability, severe

Symptom Information:

Symptom ID: HPO:0010864
Synonyms:
Early and severe mental retardation [HPO:0010864]
Mental retardation, severe [HPO:0010864]
Severe mental retardation [HPO:0010864]
Early and severe mental retardation [OMIM:Early and severe mental retardation]
Intellectual disability, severe [OMIM:Intellectual disability, severe]
Mental retardation, severe [OMIM:Mental retardation, severe]
Severe mental retardation [OMIM:Severe mental retardation]
Mental retardation, severe (MEB) [OMIM:Mental retardation, severe (MEB)]
Mental retardation, severe (if untreated) [OMIM:Mental retardation, severe (if untreated)]
Mental retardation, severe, (some patients) [OMIM:Mental retardation, severe, (some patients)]
Severe mental retardation (IQ 10-40) [OMIM:Severe mental retardation (IQ 10-40)]
Severe mental retardation (IQ 40) [OMIM:Severe mental retardation (IQ 40)]
Severe mental retardation (congenital form) [OMIM:Severe mental retardation (congenital form)]
Severe mental retardation [MedDRA:10040443]
Quality:
Cross references:
OMIM: "Early and severe mental retardation" [OMIM:Early and severe mental retardation]
OMIM: "Intellectual disability, severe" [OMIM:Intellectual disability, severe]
OMIM: "Mental retardation, severe" [OMIM:Mental retardation, severe]
OMIM: "Severe mental retardation" [OMIM:Severe mental retardation]
OMIM: "Mental retardation, severe (MEB)" [OMIM:Mental retardation, severe (MEB)]
OMIM: "Mental retardation, severe (if untreated)" [OMIM:Mental retardation, severe (if untreated)]
OMIM: "Mental retardation, severe, (some patients)" [OMIM:Mental retardation, severe, (some patients)]
OMIM: "Severe mental retardation (IQ 10-40)" [OMIM:Severe mental retardation (IQ 10-40)]
OMIM: "Severe mental retardation (IQ 40)" [OMIM:Severe mental retardation (IQ 40)]
OMIM: "Severe mental retardation (congenital form)" [OMIM:Severe mental retardation (congenital form)]
Is a (Direct Parents):
HPO         Intellectual disability
MedDRA Intellectual disability
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of higher mental function(HPO:0011446)
                Cognitive impairment(HPO:0100543)
                   Intellectual disability(HPO:0001249)
                      Intellectual disability, severe(HPO:0010864)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Mental impairment disorders(MedDRA:10057167)
       Intellectual disability(HPO:0001249)
          Intellectual disability, severe(HPO:0010864)
Social circumstances(MedDRA:10041244)
    Lifestyle issues(MedDRA:10024450)
       Disability issues(MedDRA:10057171)
          Intellectual disability(HPO:0001249)
             Intellectual disability, severe(HPO:0010864)
Database Frequency: 120 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q13.3 microdeletion syndrome (Orphanet:199318)
5q14.3 microdeletion syndrome (Orphanet:228384)
ALOPECIA-MENTAL RETARDATION SYNDROME 1 (OMIM:203650)
ALOPECIA-MENTAL RETARDATION SYNDROME 3 (OMIM:613930)
ARIMA SYNDROME (OMIM:243910)
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES (OMIM:208080)
Acrocallosal syndrome (Orphanet:36)
Aicardi-Goutières syndrome (Orphanet:51)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Angelman syndrome (Orphanet:72)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET (OMIM:114100)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
CADDS (Orphanet:369942)
CAMOS syndrome (Orphanet:83472)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME (OMIM:212540)
CEDNIK syndrome (Orphanet:66631)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION (OMIM:215480)
CLN10 disease (Orphanet:228337)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Christianson syndrome (Orphanet:85278)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 (OMIM:612164)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Faciocardiorenal syndrome (Orphanet:1973)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
GOMBO SYNDROME (OMIM:233270)
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY (OMIM:608278)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME (OMIM:236450)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Hyperekplexia - epilepsy (Orphanet:163985)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome with oculorenal defect (Orphanet:2318)
KAHRIZI SYNDROME (OMIM:612713)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Kapur-Toriello syndrome (Orphanet:2328)
Kleefstra syndrome (Orphanet:261494)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
Leigh syndrome (Orphanet:506)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 (OMIM:615074)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK (OMIM:609438)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
MICROHYDRANENCEPHALY (OMIM:605013)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
Maternally-inherited cardiomyopathy and hearing loss (Orphanet:1349)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 18q (Orphanet:1600)
Muscle-eye-brain disease (Orphanet:588)
NEPHROSIALIDOSIS (OMIM:256150)
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY (OMIM:256720)
PALANT CLEFT PALATE SYNDROME (OMIM:260150)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Pitt-Hopkins syndrome (Orphanet:2896)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION (OMIM:268050)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Sialidosis type 2 (Orphanet:87876)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Steinert myotonic dystrophy (Orphanet:273)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Urocanic aciduria (Orphanet:210128)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Zellweger syndrome (Orphanet:912)
Zimmermann-Laband syndrome (Orphanet:3473)