Intellectual disability, progressive
Symptom Information:
Symptom ID: | HPO:0006887 | ||||
Synonyms: |
|
||||
Quality: | |||||
Cross references: |
|
||||
Is a (Direct Parents): |
|
||||
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, progressive(HPO:0006887) MedDRA: |
||||
Database Frequency: | 68 / 7739 | ||||
Resource: |
All diseases associated with this symptom:
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES | (OMIM:208080) |
Aicardi-Goutières syndrome | (Orphanet:51) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alopecia - contractures - dwarfism - intellectual deficit | (Orphanet:1005) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Angelman syndrome | (Orphanet:72) |
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) |
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) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | (Orphanet:1970) |
Faciocardiorenal syndrome | (Orphanet:1973) |
GOMBO SYNDROME | (OMIM:233270) |
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY | (OMIM:608278) |
GTP cyclohydrolase I deficiency | (Orphanet:2102) |
Genitopatellar syndrome | (Orphanet:85201) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 | (OMIM:225250) |
Hyperekplexia - epilepsy | (Orphanet:163985) |
Intellectual deficit - myopathy - short stature - endocrine defect | (Orphanet:3068) |
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 with oculorenal defect | (Orphanet:2318) |
KAHRIZI SYNDROME | (OMIM:612713) |
Kapur-Toriello syndrome | (Orphanet:2328) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
Leukocyte adhesion deficiency type II | (Orphanet:99843) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE | (OMIM:609037) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 | (OMIM:608443) |
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK | (OMIM:609438) |
MGAT2-CDG | (Orphanet:79329) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, myopathic form | (Orphanet:254875) |
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY | (OMIM:256720) |
Norrie disease | (Orphanet:649) |
PALANT CLEFT PALATE SYNDROME | (OMIM:260150) |
Pachygyria - epilepsy - intellectual deficit - dysmorphism | (Orphanet:94084) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Peters-plus syndrome | (Orphanet:709) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Pseudoleprechaunism syndrome, Patterson type | (Orphanet:2976) |
RENAL AND MULLERIAN DUCT HYPOPLASIA | (OMIM:266810) |
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION | (OMIM:268050) |
SPONASTRIME dysplasia | (Orphanet:93357) |
Severe intellectual deficit and progressive spastic paraplegia | (Orphanet:280763) |
Severe neonatal-onset encephalopathy with microcephaly | (Orphanet:209370) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
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) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
Zellweger syndrome | (Orphanet:912) |
Zimmermann-Laband syndrome | (Orphanet:3473) |