Intellectual disability
Symptom Information:
Symptom ID: | HPO:0001249 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) MedDRA: Nervous system disorders(MedDRA:10029205) Mental impairment disorders(MedDRA:10057167) Intellectual disability(HPO:0001249) Social circumstances(MedDRA:10041244) Lifestyle issues(MedDRA:10024450) Disability issues(MedDRA:10057171) Intellectual disability(HPO:0001249) |
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Database Frequency: | 1089 / 7739 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
15q11q13 microduplication syndrome | (Orphanet:238446) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17q11 microdeletion syndrome | (Orphanet:97685) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q12 microduplication syndrome | (Orphanet:261272) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | (OMIM:210200) |
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA | (OMIM:616271) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
3-methylglutaconic aciduria type 4 | (Orphanet:67048) |
3-phosphoglycerate dehydrogenase deficiency | (Orphanet:79351) |
3-phosphoserine phosphatase deficiency | (Orphanet:79350) |
3MC SYNDROME 2 | (OMIM:265050) |
3MC SYNDROME 3 | (OMIM:248340) |
3q29 microdeletion syndrome | (Orphanet:65286) |
3q29 microduplication | (Orphanet:251038) |
4-hydroxybutyric aciduria | (Orphanet:22) |
48,XXYY syndrome | (Orphanet:10) |
5p13 microduplication syndrome | (Orphanet:329802) |
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | (OMIM:231550) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:614613) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
ADAMS-OLIVER SYNDROME 3 | (OMIM:614814) |
AGENESIS OF CEREBRAL WHITE MATTER | (OMIM:202600) |
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS | (OMIM:600908) |
AICARDI-GOUTIERES SYNDROME 7 | (OMIM:615846) |
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | (OMIM:615510) |
ALG2-CDG | (Orphanet:79326) |
ALOPECIA-MENTAL RETARDATION SYNDROME 2 | (OMIM:610422) |
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 | (OMIM:104290) |
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS | (OMIM:204730) |
AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION | (OMIM:204850) |
AMYOTROPHIC DYSTONIC PARAPLEGIA | (OMIM:105300) |
ANE syndrome | (Orphanet:157954) |
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES | (OMIM:300887) |
ARACHNOID CYSTS, INTRACRANIAL | (OMIM:207790) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES | (OMIM:208081) |
ASPARAGINE SYNTHETASE | (OMIM:108370) |
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY | (OMIM:208750) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
ATAXIA-MICROCEPHALY-CATARACT SYNDROME | (OMIM:208870) |
ATONIC-ASTATIC SYNDROME OF FOERSTER | (OMIM:209100) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
AUTISM | (OMIM:209850) |
AUTISM, SUSCEPTIBILITY TO, 3 | (OMIM:608049) |
AUTISM, SUSCEPTIBILITY TO, 8 | (OMIM:607373) |
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 | (OMIM:300425) |
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 | (OMIM:300495) |
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 | (OMIM:300496) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Achalasia - microcephaly | (Orphanet:929) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acro-fronto-facio-nasal dysostosis | (Orphanet:1784) |
Acrocallosal syndrome | (Orphanet:36) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Acromelic frontonasal dysplasia | (Orphanet:1827) |
Adams-Oliver syndrome | (Orphanet:974) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Adult-onset autosomal recessive cerebellar ataxia | (Orphanet:284289) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | (Orphanet:86818) |
Alström syndrome | (Orphanet:64) |
Alternating hemiplegia of childhood | (Orphanet:2131) |
Anauxetic dysplasia | (Orphanet:93347) |
Angio-osteohypertrophic syndrome | (Orphanet:2346) |
Aniridia - cerebellar ataxia - intellectual deficit | (Orphanet:1065) |
Aniridia - renal agenesis - psychomotor retardation | (Orphanet:1064) |
Antley-Bixler syndrome | (Orphanet:83) |
Aortic arch anomaly - peculiar facies - intellectual deficit | (Orphanet:1110) |
Apert syndrome | (Orphanet:87) |
Aphalangy - syndactyly - microcephaly | (Orphanet:1113) |
Arginine:glycine amidinotransferase deficiency | (Orphanet:35704) |
Argininemia | (Orphanet:90) |
Argininosuccinic aciduria | (Orphanet:23) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Aspartylglucosaminuria | (Orphanet:93) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Atkin-Flaitz syndrome | (Orphanet:1193) |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome | (Orphanet:370943) |
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | (Orphanet:308410) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant hyperinsulinism due to SUR1 deficiency | (Orphanet:276575) |
Autosomal dominant nocturnal frontal lobe epilepsy | (Orphanet:98784) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant spastic paraplegia type 3 | (Orphanet:100984) |
Autosomal dominant spastic paraplegia type 4 | (Orphanet:100985) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit | (Orphanet:284282) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive distal osteolysis syndrome | (Orphanet:2776) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive infantile hypercalcemia | (Orphanet:300547) |
Autosomal recessive limb-girdle muscular dystrophy type 2K | (Orphanet:86812) |
Autosomal recessive limb-girdle muscular dystrophy type 2M | (Orphanet:206554) |
Autosomal recessive limb-girdle muscular dystrophy type 2P | (Orphanet:280333) |
Autosomal recessive nonsyndromic intellectual deficit | (Orphanet:88616) |
Autosomal recessive primary microcephaly | (Orphanet:2512) |
Autosomal recessive proximal renal tubular acidosis | (Orphanet:93607) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay | (Orphanet:98) |
Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
Autosomal recessive spastic paraplegia type 14 | (Orphanet:100995) |
Autosomal recessive spastic paraplegia type 15 | (Orphanet:100996) |
Autosomal recessive spastic paraplegia type 18 | (Orphanet:209951) |
Autosomal recessive spastic paraplegia type 35 | (Orphanet:171629) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Autosomal recessive spastic paraplegia type 54 | (Orphanet:320380) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
BARAITSER-WINTER SYNDROME 2 | (OMIM:614583) |
BARTTER SYNDROME, ANTENATAL, TYPE 1 | (OMIM:601678) |
BARTTER SYNDROME, ANTENATAL, TYPE 2 | (OMIM:241200) |
BARTTER SYNDROME, TYPE 4A | (OMIM:602522) |
BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | (OMIM:615722) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
BRESEK syndrome | (Orphanet:85284) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bangstad syndrome | (Orphanet:1227) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Barber-Say syndrome | (Orphanet:1231) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 6 | (OMIM:605231) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Bardet-Biedl syndrome 8 | (OMIM:615985) |
Bardet-Biedl syndrome 9 | (OMIM:615986) |
Bartter syndrome | (Orphanet:112) |
Behr syndrome | (Orphanet:1239) |
Benign adult familial myoclonic epilepsy | (Orphanet:86814) |
Berardinelli-Seip congenital lipodystrophy | (Orphanet:528) |
Beta-mannosidosis | (Orphanet:118) |
Beta-propeller protein-associated neurodegeneration | (Orphanet:329284) |
Beta-ureidopropionase deficiency | (Orphanet:65287) |
Biemond syndrome type 2 | (Orphanet:141333) |
Bilateral frontal polymicrogyria | (Orphanet:208444) |
Bilateral frontoparietal polymicrogyria | (Orphanet:101070) |
Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
Björnstad syndrome | (Orphanet:123) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharonasofacial malformation syndrome | (Orphanet:1252) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, SBBYS type | (Orphanet:3047) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Bloom syndrome | (Orphanet:125) |
Blue diaper syndrome | (Orphanet:94086) |
Brachydactyly - nystagmus - cerebellar ataxia | (Orphanet:1246) |
Brain demyelination due to methionine adenosyltransferase deficiency | (Orphanet:168598) |
Branchio-skeleto-genital syndrome | (Orphanet:1299) |
Bullous dystrophy, macular type | (Orphanet:1867) |
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:300619) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CEPHALIN LIPIDOSIS | (OMIM:212800) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4 | (OMIM:615268) |
CEREBELLOFACIODENTAL SYNDROME | (OMIM:616202) |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 | (OMIM:603513) |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2 | (OMIM:612900) |
CHARGE syndrome | (Orphanet:138) |
CHROMOSOME 15q11.2 DELETION SYNDROME | (OMIM:615656) |
CHROMOSOME 1p32-p31 DELETION SYNDROME | (OMIM:613735) |
CHROMOSOME 5q12 DELETION SYNDROME | (OMIM:615668) |
CHROMOSOME Xp11.22 DUPLICATION SYNDROME | (OMIM:300705) |
CHROMOSOME Xp22 DELETION SYNDROME | (OMIM:300830) |
CK syndrome | (Orphanet:251383) |
CLARK-BARAITSER SYNDROME | (OMIM:300602) |
CLN1 disease | (Orphanet:228329) |
CLN3 disease | (Orphanet:228346) |
CLN5 disease | (Orphanet:228360) |
CLN9 disease | (Orphanet:228357) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
COCKAYNE SYNDROME, TYPE III | (OMIM:216411) |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | (OMIM:607426) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COG5-CDG | (Orphanet:263487) |
COG8-CDG | (Orphanet:95428) |
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA | (OMIM:614306) |
COLD-INDUCED SWEATING SYNDROME 1 | (OMIM:272430) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | (OMIM:615578) |
CONE-ROD DYSTROPHY 1 | (OMIM:600624) |
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET | (OMIM:217200) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 3 | (OMIM:610759) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
CORPUS CALLOSUM, AGENESIS OF | (OMIM:217990) |
COWDEN SYNDROME 5 | (OMIM:615108) |
COWDEN SYNDROME 6 | (OMIM:615109) |
CRANIODIAPHYSEAL DYSPLASIA | (OMIM:218300) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME | (OMIM:218650) |
CREE MENTAL RETARDATION SYNDROME | (OMIM:606851) |
CUTIS VERTICIS GYRATA AND MENTAL RETARDATION | (OMIM:219300) |
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS | (OMIM:605685) |
CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION | (OMIM:304200) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
CYSTEINE PEPTIDURIA | (OMIM:219550) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Cabezas syndrome | (Orphanet:85293) |
Camptodactyly - tall stature - scoliosis - hearing loss | (Orphanet:85164) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carnosinemia | (Orphanet:1361) |
Carpenter syndrome | (Orphanet:65759) |
Cataract - hypertrichosis - intellectual deficit | (Orphanet:1375) |
Cataract - nephropathy - encephalopathy | (Orphanet:1380) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Cerebrotendinous xanthomatosis | (Orphanet:909) |
Charcot-Marie-Tooth disease type 4B3 | (Orphanet:363981) |
Choroideremia - deafness - obesity | (Orphanet:1435) |
Chylomicron retention disease | (Orphanet:71) |
Chédiak-Higashi syndrome | (Orphanet:167) |
Citrullinemia type I | (Orphanet:247525) |
Citrullinemia type II | (Orphanet:247585) |
Classic galactosemia | (Orphanet:79239) |
Classic maple syrup urine disease | (Orphanet:268145) |
Classical homocystinuria | (Orphanet:394) |
Classical phenylketonuria | (Orphanet:79254) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cohen syndrome | (Orphanet:193) |
Cold-induced sweating syndrome | (Orphanet:157820) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital hydrocephalus | (Orphanet:2185) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect | (Orphanet:280671) |
Congenital muscular dystrophy type 1A | (Orphanet:258) |
Congenital muscular dystrophy with cerebellar involvement | (Orphanet:370959) |
Congenital muscular dystrophy with integrin alpha-7 deficiency | (Orphanet:34520) |
Cooper-Jabs syndrome | (Orphanet:1488) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Corneal-cerebellar syndrome | (Orphanet:3177) |
Cornelia de Lange syndrome | (Orphanet:199) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Cortical dysplasia - focal epilepsy syndrome | (Orphanet:163681) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofacial-ulnar-renal syndrome | (Orphanet:293843) |
Crouzon disease | (Orphanet:207) |
Cystic fibrosis - gastritis - megaloblastic anemia | (Orphanet:2575) |
Cystinosis | (Orphanet:213) |
Cystinuria | (Orphanet:214) |
D-2-@HYDROXYGLUTARIC ACIDURIA 1 | (OMIM:600721) |
D-2-hydroxyglutaric aciduria | (Orphanet:79315) |
D-glyceric aciduria | (Orphanet:941) |
DE SANCTIS-CACCHIONE SYNDROME | (OMIM:278800) |
DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR | (OMIM:221300) |
DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM | (OMIM:220900) |
DEND syndrome | (Orphanet:79134) |
DERMATOLEUKODYSTROPHY | (OMIM:221790) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
DESBUQUOIS DYSPLASIA 2 | (OMIM:615777) |
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA | (OMIM:221950) |
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | (OMIM:304800) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DPAGT1-CDG | (Orphanet:86309) |
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE | (OMIM:223500) |
DYSAUTONOMIA-LIKE DISORDER | (OMIM:224000) |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 | (OMIM:224230) |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 | (OMIM:613987) |
DYSMYELINATION WITH JAUNDICE | (OMIM:224250) |
De Barsy syndrome | (Orphanet:2962) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Dehydratase deficiency | (Orphanet:1578) |
Dent disease type 2 | (Orphanet:93623) |
Desbuquois syndrome | (Orphanet:1425) |
Developmental delay with autism spectrum disorder and gait instability | (Orphanet:329195) |
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type | (Orphanet:363444) |
Dicarboxylic aminoaciduria | (Orphanet:2195) |
Dihydropteridine reductase deficiency | (Orphanet:226) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Dihydropyrimidinuria | (Orphanet:38874) |
Dilated cardiomyopathy with ataxia | (Orphanet:66634) |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | (Orphanet:2229) |
Disorder of sex development - intellectual deficit | (Orphanet:2983) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 6p | (Orphanet:96125) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dorfman-Chanarin disease | (Orphanet:98907) |
Down syndrome | (Orphanet:870) |
Dubowitz syndrome | (Orphanet:235) |
Duchenne muscular dystrophy | (Orphanet:98896) |
Dwarfism - intellectual deficit - eye abnormality | (Orphanet:2650) |
Dysequilibrium syndrome | (Orphanet:1766) |
Dysosteosclerosis | (Orphanet:1782) |
EAST syndrome | (Orphanet:199343) |
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY | (OMIM:600906) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 | (OMIM:129900) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 | (OMIM:604292) |
EDINBURGH MALFORMATION SYNDROME | (OMIM:129850) |
EEC syndrome | (Orphanet:1896) |
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE | (OMIM:608763) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
ENCEPHALOMALACIA, MULTILOCULAR | (OMIM:225700) |
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 | (OMIM:607876) |
EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 | (OMIM:600513) |
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 | (OMIM:615005) |
EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION | (OMIM:226800) |
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 | (OMIM:616230) |
EPILEPSY-TELANGIECTASIA | (OMIM:226850) |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | (OMIM:615369) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | (OMIM:614558) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 | (OMIM:615744) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 | (OMIM:615871) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 | (OMIM:616139) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | (OMIM:613720) |
EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY | (OMIM:300872) |
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY | (OMIM:133750) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Early infantile epileptic encephalopathy | (Orphanet:1934) |
Early-onset X-linked optic atrophy | (Orphanet:98890) |
Early-onset parkinsonism - intellectual deficit | (Orphanet:2379) |
Ectodermal dysplasia - blindness | (Orphanet:1806) |
Ectodermal dysplasia, Berlin type | (Orphanet:1816) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ellis Van Creveld syndrome | (Orphanet:289) |
Emanuel syndrome | (Orphanet:96170) |
Emery-Nelson syndrome | (Orphanet:1927) |
Encephalopathy due to GLUT1 deficiency | (Orphanet:71277) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
Encephalopathy due to hydroxykynureninuria | (Orphanet:79155) |
Endomyocardial fibroelastosis | (Orphanet:2022) |
Epilepsy - microcephaly - skeletal dysplasia | (Orphanet:1948) |
Epileptic encephalopathy with continuous spike-and-wave during sleep | (Orphanet:725) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION | (OMIM:227250) |
FACIOCARDIOMELIC SYNDROME | (OMIM:612731) |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 | (OMIM:158900) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
FEINGOLD SYNDROME 1 | (OMIM:164280) |
FEINGOLD SYNDROME 2 | (OMIM:614326) |
FG SYNDROME 4 | (OMIM:300422) |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C | (OMIM:609384) |
FRAXE intellectual deficit | (Orphanet:100973) |
Facioscapulohumeral dystrophy | (Orphanet:269) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Familial focal epilepsy with variable foci | (Orphanet:98820) |
Familial hyperthyroidism due to mutations in TSH receptor | (Orphanet:424) |
Familial infantile myoclonic epilepsy | (Orphanet:352582) |
Familial scaphocephaly syndrome, McGillivray type | (Orphanet:168624) |
Familial thyroid dyshormonogenesis | (Orphanet:95716) |
Fanconi anemia | (Orphanet:84) |
Farber lipogranulomatosis | (Orphanet:333) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Feingold syndrome | (Orphanet:1305) |
Female restricted epilepsy with intellectual deficit | (Orphanet:101039) |
Fetal iodine syndrome | (Orphanet:1910) |
Fibrodysplasia ossificans progressiva | (Orphanet:337) |
Filippi syndrome | (Orphanet:3255) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Focal dermal hypoplasia | (Orphanet:2092) |
Formiminoglutamic aciduria | (Orphanet:51208) |
Fountain syndrome | (Orphanet:3219) |
Fragile X syndrome | (Orphanet:908) |
Fraser syndrome | (Orphanet:2052) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Frontometaphyseal dysplasia | (Orphanet:1826) |
Frontonasal dysplasia | (Orphanet:250) |
Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | (Orphanet:306542) |
Fryns syndrome | (Orphanet:2059) |
Fucosidosis | (Orphanet:349) |
GM1 gangliosidosis | (Orphanet:354) |
GM1 gangliosidosis type 1 | (Orphanet:79255) |
GMS syndrome | (Orphanet:2090) |
GTP cyclohydrolase I deficiency | (Orphanet:2102) |
Galactose epimerase deficiency | (Orphanet:79238) |
Galactosialidosis | (Orphanet:351) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gamma-glutamyl transpeptidase deficiency | (Orphanet:33573) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
Generalized congenital lipodystrophy with myopathy | (Orphanet:228429) |
Geroderma osteodysplastica | (Orphanet:2078) |
Giant axonal neuropathy | (Orphanet:643) |
Glutathione synthetase deficiency with 5-oxoprolinuria | (Orphanet:289846) |
Glycine encephalopathy | (Orphanet:407) |
Glycogen storage disease due to GLUT2 deficiency | (Orphanet:2088) |
Glycogen storage disease due to LAMP-2 deficiency | (Orphanet:34587) |
Glycogen storage disease due to acid maltase deficiency | (Orphanet:365) |
Glycogen storage disease due to aldolase A deficiency | (Orphanet:57) |
Glycogen storage disease due to glucose-6-phosphatase deficiency type a | (Orphanet:79258) |
Glycogen storage disease due to glucose-6-phosphatase deficiency type b | (Orphanet:79259) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | (Orphanet:713) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Goldenhar syndrome | (Orphanet:374) |
Gordon syndrome | (Orphanet:376) |
Gorlin syndrome | (Orphanet:377) |
Griscelli disease | (Orphanet:381) |
Griscelli disease type 1 | (Orphanet:79476) |
Growth delay due to insulin-like growth factor type 1 deficiency | (Orphanet:73272) |
Guanidinoacetate methyltransferase deficiency | (Orphanet:382) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT | (OMIM:235830) |
HOLOPROSENCEPHALY 2 | (OMIM:157170) |
HOLOPROSENCEPHALY 5 | (OMIM:609637) |
HOOFT DISEASE | (OMIM:236300) |
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 | (OMIM:236600) |
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 | (OMIM:615219) |
HYDROXYPROLINEMIA | (OMIM:237000) |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 | (OMIM:609975) |
HYPERLYSINURIA WITH HYPERAMMONEMIA | (OMIM:238750) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | (OMIM:614749) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 | (OMIM:615716) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 | (OMIM:616025) |
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES | (OMIM:609943) |
HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINEGUANINE PHOSPHORIBOSYLTRANSFERASE | (OMIM:240000) |
HYPOGLYCEMIA, LEUCINE-INDUCED | (OMIM:240800) |
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY | (OMIM:241000) |
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA | (OMIM:147950) |
Hair defect - photosensitivity - intellectual deficit | (Orphanet:1408) |
Hall-Riggs syndrome | (Orphanet:2107) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Harrod syndrome | (Orphanet:2115) |
Heart defect - round face - congenital developmental delay | (Orphanet:1355) |
Hemolytic anemia due to glucophosphate isomerase deficiency | (Orphanet:712) |
Hennekam syndrome | (Orphanet:2136) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary fructose intolerance | (Orphanet:469) |
Hereditary sensory and autonomic neuropathy type 4 | (Orphanet:642) |
High myopia-sensorineural deafness syndrome | (Orphanet:363396) |
Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
Histidinemia | (Orphanet:2157) |
Homocarnosinosis | (Orphanet:2168) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hunter-McAlpine craniosynostosis | (Orphanet:97340) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hydrocephalus with stenosis of aqueduct of Sylvius | (Orphanet:2182) |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | (Orphanet:927) |
Hyperdibasic aminoaciduria type 1 | (Orphanet:1032) |
Hyperinsulinism due to glucokinase deficiency | (Orphanet:79299) |
Hyperinsulinism-hyperammonemia syndrome | (Orphanet:35878) |
Hyperleucine-isoleucinemia | (OMIM:238340) |
Hyperlysinemia due to defect in lysine transport into mitochondria | (OMIM:238710) |
Hyperlysinemia, type I | (OMIM:238700) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hyperphosphatasia-intellectual deficiency syndrome | (Orphanet:247262) |
Hyperprolinemia type 1 | (Orphanet:419) |
Hyperprolinemia type 2 | (Orphanet:79101) |
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency | (Orphanet:2435) |
Hypochondroplasia | (Orphanet:429) |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | (Orphanet:363523) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypospadias - intellectual deficit, Goldblatt type | (Orphanet:2261) |
ICF syndrome | (Orphanet:2268) |
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS | (OMIM:242150) |
ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED | (OMIM:308200) |
ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA | (OMIM:242550) |
ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULESIN THE SKIN | (OMIM:601039) |
IMMUNODEFICIENCY 23 | (OMIM:615816) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 | (OMIM:614069) |
INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION | (OMIM:243050) |
Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit | (Orphanet:2269) |
Ichthyosis - intellectual deficit - dwarfism - renal impairment | (Orphanet:2278) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Iminoglycinuria | (Orphanet:42062) |
Incontinentia pigmenti | (Orphanet:464) |
Infantile Bartter syndrome with deafness | (Orphanet:89938) |
Infantile epileptic-dyskinetic encephalopathy | (Orphanet:364063) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Inherited congenital spastic tetraplegia | (Orphanet:210141) |
Intellectual deficiency - hypotonia - spasticity - sleep disorder | (Orphanet:356996) |
Intellectual deficit - alacrima - achalasia | (Orphanet:289483) |
Intellectual deficit - balding - patella luxation - acromicria | (Orphanet:3041) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit - spasticity - ectrodactyly | (Orphanet:1891) |
Intellectual deficit, Birk-Barel type | (Orphanet:166108) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, Wolff type | (Orphanet:3080) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual deficit, X-linked - seizures - psoriasis | (Orphanet:3052) |
Intellectual deficit, X-linked, Abidi type | (Orphanet:85273) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Intellectual deficit, X-linked, Miles-Carpenter type | (Orphanet:85283) |
Intellectual deficit, X-linked, Nascimento type | (Orphanet:163956) |
Intellectual deficit, X-linked, Raymond type | (Orphanet:163953) |
Intellectual deficit, X-linked, Schimke type | (Orphanet:85285) |
Intellectual deficit, X-linked, Shrimpton type | (Orphanet:85324) |
Intellectual deficit, X-linked, Siderius type | (Orphanet:85287) |
Intellectual deficit, X-linked, Snyder type | (Orphanet:3063) |
Intellectual deficit, X-linked, Turner type | (Orphanet:85328) |
Intellectual deficit, X-linked, Wilson type | (Orphanet:85290) |
Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | (Orphanet:363611) |
Intellectual disability-strabismus syndrome | (Orphanet:363528) |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency | (Orphanet:6) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated focal cortical dysplasia | (Orphanet:65683) |
Isolated focal cortical dysplasia type II | (Orphanet:268994) |
Isolated focal cortical dysplasia type IIa | (Orphanet:269001) |
Isolated focal cortical dysplasia type IIb | (Orphanet:269008) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Isolated thyrotropin-releasing hormone deficiency | (Orphanet:238670) |
Ito hypomelanosis | (Orphanet:435) |
Jacobsen syndrome | (Orphanet:2308) |
Jawad syndrome | (Orphanet:313795) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 10 | (OMIM:300804) |
Joubert syndrome 15 | (OMIM:614464) |
Joubert syndrome 18 | (OMIM:614815) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome 5 | (OMIM:610188) |
Joubert syndrome 6 | (OMIM:610688) |
Joubert syndrome 7 | (OMIM:611560) |
Joubert syndrome 9 | (OMIM:612285) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Juberg-Hayward syndrome | (Orphanet:2319) |
Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency | (Orphanet:352497) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KBG syndrome | (Orphanet:2332) |
KETOADIPICACIDURIA | (OMIM:245130) |
KIFAFA SEIZURE DISORDER | (OMIM:245180) |
Kabuki syndrome | (Orphanet:2322) |
Kaler-Garrity-Stern syndrome | (Orphanet:2324) |
Kallmann syndrome | (Orphanet:478) |
Ketoacidosis due to beta-ketothiolase deficiency | (Orphanet:134) |
Kleefstra syndrome | (Orphanet:261494) |
Klippel-Trénaunay syndrome | (Orphanet:90308) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Kostmann syndrome | (Orphanet:99749) |
L1 syndrome | (Orphanet:275543) |
LACTIC ACIDURIA DUE TO D-LACTIC ACID | (OMIM:245450) |
LEBER OPTIC ATROPHY AND DYSTONIA | (OMIM:500001) |
LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC | (OMIM:151000) |
LEOPARD SYNDROME 3 | (OMIM:613707) |
LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT | (OMIM:308950) |
LESCH-NYHAN SYNDROME | (OMIM:300322) |
LOEYS-DIETZ SYNDROME 1 | (OMIM:609192) |
LOEYS-DIETZ SYNDROME 2 | (OMIM:610168) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
LYSINE MALABSORPTION SYNDROME | (OMIM:247950) |
Lambert syndrome | (Orphanet:1296) |
Landau-Kleffner syndrome | (Orphanet:98818) |
Langer-Giedion syndrome | (Orphanet:502) |
Laryngeal abductor paralysis | (Orphanet:2808) |
Laryngeal abductor paralysis - intellectual deficit | (Orphanet:2375) |
Late-onset localized junctional epidermolysis bullosa - intellectual deficit | (Orphanet:231556) |
Lathosterolosis | (Orphanet:46059) |
Laurence-Moon syndrome | (Orphanet:2377) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leber congenital amaurosis 2 | (OMIM:204100) |
Leigh syndrome | (Orphanet:506) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Leprechaunism | (Orphanet:508) |
Lesch-Nyhan syndrome | (Orphanet:510) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Leukoencephalopathy - metaphyseal chondrodysplasia | (Orphanet:83629) |
Linear nevus sebaceus syndrome | (Orphanet:2612) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
Lissencephaly due to LIS1 mutation | (Orphanet:95232) |
Lissencephaly type 1 due to doublecortin gene mutation | (Orphanet:2148) |
Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
Lowry-MacLean syndrome | (Orphanet:2409) |
Lymphangioleiomyomatosis | (Orphanet:538) |
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | (OMIM:248000) |
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY | (OMIM:248400) |
MASA syndrome | (Orphanet:2466) |
MEDNIK syndrome | (Orphanet:171851) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | (OMIM:613925) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION | (OMIM:613926) |
MEGALENCEPHALY, AUTOSOMAL DOMINANT | (OMIM:155350) |
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | (OMIM:615937) |
MEGDEL syndrome | (Orphanet:352328) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MELAS | (Orphanet:550) |
MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA | (OMIM:156190) |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES | (OMIM:613670) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 | (OMIM:614256) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 | (OMIM:614257) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | (OMIM:614562) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 | (OMIM:614563) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 | (OMIM:614607) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 | (OMIM:614608) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 | (OMIM:614609) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | (OMIM:615009) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 | (OMIM:615075) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2 | (OMIM:614113) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 | (OMIM:615761) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 | (OMIM:615828) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 | (OMIM:615834) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 | (OMIM:615866) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 | (OMIM:612580) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 | (OMIM:616083) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 | (OMIM:616311) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 | (OMIM:612581) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | (OMIM:612621) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 | (OMIM:613970) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | (OMIM:614104) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 8 | (OMIM:614254) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | (OMIM:614255) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | (OMIM:249500) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | (OMIM:611090) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | (OMIM:613192) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 | (OMIM:614020) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 | (OMIM:614249) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | (OMIM:614340) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31 | (OMIM:614329) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34 | (OMIM:614499) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 | (OMIM:615162) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | (OMIM:615541) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | (OMIM:615599) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 | (OMIM:615637) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 | (OMIM:615802) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 | (OMIM:615817) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 | (OMIM:615942) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 | (OMIM:615979) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 | (OMIM:616116) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 | (OMIM:616193) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 | (OMIM:616269) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | (OMIM:616281) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | (OMIM:611091) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 | (OMIM:611092) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | (OMIM:611093) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 | (OMIM:611095) |
MENTAL RETARDATION, FRA12A TYPE | (OMIM:136630) |
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM | (OMIM:606242) |
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES | (OMIM:606772) |
MENTAL RETARDATION, X-LINKED 1 | (OMIM:309530) |
MENTAL RETARDATION, X-LINKED 100 | (OMIM:300923) |
MENTAL RETARDATION, X-LINKED 101 | (OMIM:300928) |
MENTAL RETARDATION, X-LINKED 19 | (OMIM:300844) |
MENTAL RETARDATION, X-LINKED 20 | (OMIM:300047) |
MENTAL RETARDATION, X-LINKED 30 | (OMIM:300558) |
MENTAL RETARDATION, X-LINKED 41 | (OMIM:300849) |
MENTAL RETARDATION, X-LINKED 45 | (OMIM:300498) |
MENTAL RETARDATION, X-LINKED 46 | (OMIM:300436) |
MENTAL RETARDATION, X-LINKED 63 | (OMIM:300387) |
MENTAL RETARDATION, X-LINKED 72 | (OMIM:300271) |
MENTAL RETARDATION, X-LINKED 88 | (OMIM:300852) |
MENTAL RETARDATION, X-LINKED 89 | (OMIM:300848) |
MENTAL RETARDATION, X-LINKED 90 | (OMIM:300850) |
MENTAL RETARDATION, X-LINKED 92 | (OMIM:300851) |
MENTAL RETARDATION, X-LINKED 95 | (OMIM:300716) |
MENTAL RETARDATION, X-LINKED 96 | (OMIM:300802) |
MENTAL RETARDATION, X-LINKED 97 | (OMIM:300803) |
MENTAL RETARDATION, X-LINKED 99 | (OMIM:300919) |
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED | (OMIM:300419) |
MERRF | (Orphanet:551) |
MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES | (OMIM:249660) |
METACHROMATIC LEUKODYSTROPHY | (OMIM:250100) |
METHIONINE MALABSORPTION SYNDROME | (OMIM:250900) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:616080) |
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS | (OMIM:604317) |
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:604321) |
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608716) |
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:612703) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM | (OMIM:616033) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MICROPHTHALMIA, SYNDROMIC 12 | (OMIM:615524) |
MICROPHTHALMIA, SYNDROMIC 13 | (OMIM:300915) |
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | (OMIM:602481) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615159) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 | (OMIM:614053) |
MITOCHONDRIAL MYOPATHY | (OMIM:251900) |
MMEP syndrome | (Orphanet:3434) |
MOMO syndrome | (Orphanet:2563) |
MORBID OBESITY AND SPERMATOGENIC FAILURE | (OMIM:615703) |
MORQUIO SYNDROME C | (OMIM:252300) |
MOVED TO 210600 | (OMIM:608664) |
MOVED TO 601464 | (OMIM:136610) |
MUCOLIPIDOSIS III ALPHA/BETA | (OMIM:252600) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 | (OMIM:615350) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | (OMIM:613154) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 | (OMIM:613151) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | (OMIM:606612) |
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies | (Orphanet:2234) |
Maple syrup urine disease | (Orphanet:511) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfanoid habitus - intellectual deficit, autosomal recessive | (Orphanet:2463) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall-Smith syndrome | (Orphanet:561) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
McDonough syndrome | (Orphanet:2471) |
Megalencephaly | (Orphanet:2477) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Menkes disease | (Orphanet:565) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Methylcobalamin deficiency type cblDv1 | (Orphanet:308380) |
Methylcobalamin deficiency type cblG | (Orphanet:2170) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblD | (Orphanet:79283) |
Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
Micro syndrome | (Orphanet:2510) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephalic primordial dwarfism, Toriello type | (Orphanet:2643) |
Microcephaly - cervical spine fusion anomalies | (Orphanet:2522) |
Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - glomerulonephritis - marfanoid habitus | (Orphanet:2172) |
Microcephaly - intellectual deficit - phalangeal and neurological anomalies | (Orphanet:137658) |
Microcephaly-cardiomyopathy syndrome | (Orphanet:2515) |
Micromelic dwarfism, Fryns type | (Orphanet:2641) |
Microphthalmia - ankyloblepharon - intellectual deficit | (Orphanet:85275) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Mietens syndrome | (Orphanet:2557) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | (Orphanet:255235) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Mohr-Tranebjaerg syndrome | (Orphanet:52368) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mowat-Wilson syndrome due to a point mutation | (Orphanet:261552) |
Mowat-Wilson syndrome due to monosomy 2q22 | (Orphanet:261537) |
Moynahan syndrome | (Orphanet:2574) |
Mucolipidosis type 3 | (Orphanet:577) |
Mucolipidosis type 4 | (Orphanet:578) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mucopolysaccharidosis type 3 | (Orphanet:581) |
Mucopolysaccharidosis type 4 | (Orphanet:582) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Muenke syndrome | (Orphanet:53271) |
Mulibrey nanism | (Orphanet:2576) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Multiple sulfatase deficiency | (Orphanet:585) |
Myhre syndrome | (Orphanet:2588) |
Myopathy and diabetes mellitus | (Orphanet:2596) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
N syndrome | (Orphanet:2608) |
NARP syndrome | (Orphanet:644) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | (OMIM:256600) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NIEMANN-PICK DISEASE, TYPE C1 | (OMIM:257220) |
NIEMANN-PICK DISEASE, TYPE C2 | (OMIM:607625) |
NOONAN SYNDROME 1 | (OMIM:163950) |
NOONAN SYNDROME 7 | (OMIM:613706) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Native American myopathy | (Orphanet:168572) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Nephrogenic diabetes insipidus | (Orphanet:223) |
Nephronophthisis 12 | (OMIM:613820) |
Nephronophthisis 18 | (OMIM:615862) |
Nephronophthisis-like nephropathy 1 | (OMIM:613159) |
Neurodegeneration with brain iron accumulation due to C19orf12 mutation | (Orphanet:289560) |
Neurodegenerative syndrome due to cerebral folate transport deficiency | (Orphanet:217382) |
Neuroectodermal melanolysosomal disease | (Orphanet:33445) |
Neuroectodermal syndrome, Johnson type | (Orphanet:2316) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Niemann-Pick disease type A | (Orphanet:77292) |
Niemann-Pick disease type C | (Orphanet:646) |
Nijmegen breakage syndrome | (Orphanet:647) |
Nijmegen breakage syndrome-like disorder | (Orphanet:240760) |
Non-progressive cerebellar ataxia with intellectual deficit | (Orphanet:314647) |
Nonacquired combined pituitary hormone deficiency with spine abnormalities | (Orphanet:231720) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OCULODENTODIGITAL DYSPLASIA | (OMIM:164200) |
OCULORENOCEREBELLAR SYNDROME | (OMIM:257970) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OROFACIODIGITAL SYNDROME XIV | (OMIM:615948) |
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA | (OMIM:615198) |
Oculo-palato-cerebral syndrome | (Orphanet:2714) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculocerebrocutaneous syndrome | (Orphanet:1647) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Odontotrichomelic syndrome | (Orphanet:2723) |
Oliver syndrome | (Orphanet:2920) |
Ophthalmoplegia - intellectual deficit - lingua scrotalis | (Orphanet:2743) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 11 | (Orphanet:141000) |
Orofaciodigital syndrome type 3 | (Orphanet:2752) |
Orofaciodigital syndrome type 5 | (Orphanet:2919) |
Osteopetrosis with renal tubular acidosis | (Orphanet:2785) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE | (OMIM:608097) |
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | (OMIM:616154) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 2B | (OMIM:202370) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PEROXISOME BIOGENESIS DISORDER 9B | (OMIM:614879) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
POLYENDOCRINE-POLYNEUROPATHY SYNDROME | (OMIM:616113) |
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE | (OMIM:615752) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | (OMIM:607596) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | (OMIM:613811) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | (OMIM:615851) |
PORENCEPHALY 1 | (OMIM:175780) |
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS | (OMIM:264140) |
PSEUDOURIDINURIA AND MENTAL DEFECT | (OMIM:264500) |
PYCR1-related DeBarsy syndrome | (Orphanet:293633) |
Pachygyria - intellectual deficit - epilepsy | (Orphanet:2798) |
Pancreatic hypoplasia - diabetes - congenital heart disease | (Orphanet:2255) |
Paraplegia - intellectual deficit - hyperkeratosis | (Orphanet:2824) |
Paris-Trousseau thrombocytopenia | (Orphanet:851) |
Partial acquired lipodystrophy | (Orphanet:79087) |
Partington syndrome | (Orphanet:94083) |
Pendred syndrome | (Orphanet:705) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Permanent neonatal diabetes mellitus | (Orphanet:99885) |
Perrault Syndrome 1 | (OMIM:233400) |
Perrault Syndrome 3 | (OMIM:614129) |
Pfeiffer syndrome | (Orphanet:710) |
Phenylketonuria | (Orphanet:716) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Piebald trait - neurologic defects | (Orphanet:2885) |
Polymicrogyria due to TUBB2B mutation | (Orphanet:300573) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 1 | (Orphanet:2254) |
Pontocerebellar hypoplasia type 8 | (Orphanet:324569) |
Porencephaly | (Orphanet:2940) |
Posterior column ataxia - retinitis pigmentosa | (Orphanet:88628) |
Potocki-Shaffer syndrome | (Orphanet:52022) |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | (Orphanet:306558) |
Primordial short stature - microdontia - opalescent and rootless teeth | (Orphanet:46658) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Progressive epilepsy-intellectual deficit, Finnish type | (Orphanet:1947) |
Progressive external ophthalmoplegia - myopathy - emaciation | (Orphanet:352447) |
Progressive myoclonic epilepsy type 3 | (Orphanet:263516) |
Proximal renal tubular acidosis | (Orphanet:47159) |
Pseudohypoparathyroidism type 1A | (Orphanet:79443) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | (Orphanet:88618) |
Pterygium colli - intellectual deficit - digital anomalies | (Orphanet:2988) |
Purine nucleoside phosphorylase deficiency | (Orphanet:760) |
Pyridoxine-dependent epilepsy | (Orphanet:3006) |
Pyruvate carboxylase deficiency | (Orphanet:3008) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Pyruvate dehydrogenase lipoic acid synthetase deficiency | (OMIM:614462) |
Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
RFT1-CDG | (Orphanet:244310) |
ROBERTS SYNDROME | (OMIM:268300) |
Rabson-Mendenhall syndrome | (Orphanet:769) |
Ramon syndrome | (Orphanet:3019) |
Recessive hereditary methemoglobinemia type 1 | (Orphanet:139373) |
Recessive hereditary methemoglobinemia type 2 | (Orphanet:139380) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renal coloboma syndrome | (Orphanet:1475) |
Renal cysts and diabetes syndrome | (Orphanet:93111) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Renpenning syndrome | (Orphanet:3242) |
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism | (Orphanet:3085) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 1 | (Orphanet:309789) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Richards-Rundle syndrome | (Orphanet:1399) |
Roberts syndrome | (Orphanet:3103) |
Rolandic epilepsy - speech dyspraxia | (Orphanet:163721) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Ruvalcaba syndrome | (Orphanet:3121) |
SABINAS BRITTLE HAIR SYNDROME | (OMIM:211390) |
SCARF syndrome | (Orphanet:3134) |
SCHAAF-YANG SYNDROME | (OMIM:615547) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SECKEL SYNDROME 6 | (OMIM:614728) |
SECKEL SYNDROME 8 | (OMIM:615807) |
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION | (OMIM:612447) |
SOTOS SYNDROME 2 | (OMIM:614753) |
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION | (OMIM:607565) |
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION | (OMIM:271109) |
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY | (OMIM:271110) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 | (OMIM:615705) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 | (OMIM:616127) |
SPONASTRIME dysplasia | (Orphanet:93357) |
SRD5A3-CDG | (Orphanet:324737) |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES | (OMIM:612948) |
STEVENSON-CAREY SYNDROME | (OMIM:611961) |
STRIATONIGRAL DEGENERATION, INFANTILE | (OMIM:271930) |
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL | (OMIM:500003) |
STT3A-CDG | (Orphanet:370921) |
STT3B-CDG | (Orphanet:370924) |
SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION | (OMIM:272000) |
Saccharopinuria | (Orphanet:3124) |
Salla disease | (Orphanet:309334) |
Sanfilippo syndrome type A | (Orphanet:79269) |
Sanfilippo syndrome type B | (Orphanet:79270) |
Sanfilippo syndrome type C | (Orphanet:79271) |
Sanfilippo syndrome type D | (Orphanet:79272) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Seckel syndrome | (Orphanet:808) |
Seizures - intellectual deficit due to hydroxylysinuria | (Orphanet:79156) |
Self-healing collodion baby | (Orphanet:281122) |
Senior-Boichis syndrome | (Orphanet:84081) |
Senior-Loken syndrome 8 | (OMIM:616307) |
Severe X-linked intellectual deficit, Gustavson type | (Orphanet:3078) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Short-rib thoracic dysplasia 10 with or without polydactyly | (OMIM:615630) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Sialidosis type 1 | (Orphanet:812) |
Sjögren-Larsson syndrome | (Orphanet:816) |
Skeletal dysplasia - epilepsy - short stature | (Orphanet:1858) |
Skeletal dysplasia - intellectual deficit | (Orphanet:1436) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Sotos syndrome | (Orphanet:821) |
Spastic diplegia, infantile type | (Orphanet:1680) |
Spastic paraplegia - epilepsy - intellectual deficit | (Orphanet:2816) |
Spastic paraplegia - glaucoma - intellectual deficit | (Orphanet:2818) |
Spastic paraplegia - nephritis - deafness | (Orphanet:2820) |
Spastic paraplegia - precocious puberty | (Orphanet:2826) |
Spastic paraplegia 64, autosomal recessive | (OMIM:615683) |
Spastic paraplegia type 2 | (Orphanet:99015) |
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit | (Orphanet:3011) |
Spasticity - intellectual deficit - X-linked epilepsy | (Orphanet:3175) |
Spinocerebellar ataxia type 13 | (Orphanet:98768) |
Spinocerebellar ataxia type 21 | (Orphanet:98773) |
Split hand-split foot malformation | (Orphanet:2440) |
Spondyloenchondrodysplasia | (Orphanet:1855) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
Spondyloepiphyseal dysplasia tarda, Kohn type | (Orphanet:163665) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Steinert myotonic dystrophy | (Orphanet:273) |
Sturge-Weber syndrome | (Orphanet:3205) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | (Orphanet:308386) |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | (Orphanet:206546) |
Syndromic X-linked intellectual deficit 7 | (Orphanet:85274) |
T-SUBSTANCE ANOMALY | (OMIM:276200) |
TELECANTHUS | (OMIM:187350) |
TENORIO SYNDROME | (OMIM:616260) |
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES | (OMIM:273390) |
THYROID DYSHORMONOGENESIS 1 | (OMIM:274400) |
THYROID DYSHORMONOGENESIS 3 | (OMIM:274700) |
THYROID DYSHORMONOGENESIS 4 | (OMIM:274800) |
THYROID DYSHORMONOGENESIS 5 | (OMIM:274900) |
TMCO1 defect syndrome | (Orphanet:228407) |
TRICHORRHEXIS NODOSA SYNDROME | (OMIM:275550) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE | (OMIM:601675) |
TRYPTOPHANURIA WITH DWARFISM | (OMIM:276100) |
TUBEROUS SCLEROSIS 1 | (OMIM:191100) |
TUBEROUS SCLEROSIS 2 | (OMIM:613254) |
Temtamy syndrome | (Orphanet:1777) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Thumb deformity - alopecia - pigmentation anomaly | (Orphanet:2251) |
Thumb stiffness - brachydactyly - intellectual deficit | (Orphanet:1078) |
Timothy syndrome | (Orphanet:65283) |
Townes-Brocks syndrome | (Orphanet:857) |
Transcobalamin deficiency | (Orphanet:859) |
Treacher-Collins syndrome | (Orphanet:861) |
Trichomegaly - retina pigmentary degeneration - dwarfism | (Orphanet:3363) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
Triple A syndrome | (Orphanet:869) |
Tuberous sclerosis | (Orphanet:805) |
Tyrosinemia type 2 | (Orphanet:28378) |
Urban-Rogers-Meyer syndrome | (Orphanet:3409) |
Urocanic aciduria | (Orphanet:210128) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
VELOCARDIOFACIAL SYNDROME | (OMIM:192430) |
Van den Bosch syndrome | (Orphanet:3417) |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | (Orphanet:308442) |
W syndrome | (Orphanet:2804) |
WAARDENBURG SYNDROME, TYPE 2E | (OMIM:611584) |
WAGR syndrome | (Orphanet:893) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME | (OMIM:194072) |
Waardenburg syndrome | (Orphanet:3440) |
Waardenburg syndrome type 3 | (Orphanet:896) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weaver syndrome | (Orphanet:3447) |
Weismann-Netter syndrome | (Orphanet:3344) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Williams syndrome | (Orphanet:904) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
Woodhouse-Sakati syndrome | (Orphanet:3464) |
Worster-Drought syndrome | (Orphanet:3465) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Charcot-Marie-Tooth disease type 2 | (Orphanet:101076) |
X-linked Charcot-Marie-Tooth disease type 4 | (Orphanet:101078) |
X-linked complicated corpus callosum dysgenesis | (Orphanet:1497) |
X-linked complicated spastic paraplegia type 1 | (Orphanet:306617) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit - spastic quadriparesis | (Orphanet:163982) |
X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
X-linked intellectual disability due to GRIA3 anomalies | (Orphanet:364028) |
X-linked intellectual disability, Hedera type | (Orphanet:93952) |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | (Orphanet:324410) |
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome | (Orphanet:85295) |
X-linked intellectual disability-retinitis pigmentosa syndrome | (Orphanet:85332) |
X-linked non-syndromic intellectual deficit | (Orphanet:777) |
X-linked spastic paraplegia type 16 | (Orphanet:100997) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
Xeroderma pigmentosum complementation group A | (Orphanet:276249) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum complementation group D | (Orphanet:276258) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Xeroderma pigmentosum/Cockayne syndrome complex | (Orphanet:220295) |
Zechi-Ceide syndrome | (Orphanet:217017) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] GLYCOGEN STORAGE DISEASE Ib | (OMIM:232220) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |