Global developmental delay
Symptom Information:
Symptom ID: | HPO:0001263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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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) Global developmental delay(HPO:0001263) MedDRA: General disorders and administration site conditions(MedDRA:10018065) General system disorders NEC(MedDRA:10018073) General signs and symptoms NEC(MedDRA:10018072) Global developmental delay(HPO:0001263) |
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Database Frequency: | 853 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY | (OMIM:616034) |
2-aminoadipic 2-oxoadipic aciduria | (Orphanet:79154) |
2-methylbutyryl-CoA dehydrogenase deficiency | (Orphanet:79157) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
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-phosphoserine phosphatase deficiency | (Orphanet:79350) |
3C syndrome | (Orphanet:7) |
3MC SYNDROME 2 | (OMIM:265050) |
3q29 microdeletion syndrome | (Orphanet:65286) |
3q29 microduplication | (Orphanet:251038) |
4-hydroxybutyric aciduria | (Orphanet:22) |
48,XXYY syndrome | (Orphanet:10) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5p13 microduplication syndrome | (Orphanet:329802) |
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY | (OMIM:614055) |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | (OMIM:231550) |
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:614613) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
ADAMS-OLIVER SYNDROME 3 | (OMIM:614814) |
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA | (OMIM:613623) |
AICA-ribosiduria | (Orphanet:250977) |
AICARDI-GOUTIERES SYNDROME 1 | (OMIM:225750) |
AICARDI-GOUTIERES SYNDROME 5 | (OMIM:612952) |
AICARDI-GOUTIERES SYNDROME 6 | (OMIM:615010) |
AICARDI-GOUTIERES SYNDROME 7 | (OMIM:615846) |
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | (OMIM:615510) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG1-CDG | (Orphanet:79327) |
ALG11-CDG | (Orphanet:280071) |
ALG13-CDG | (Orphanet:324422) |
ALG2-CDG | (Orphanet:79326) |
ALG3-CDG | (Orphanet:79321) |
ALG6-CDG | (Orphanet:79320) |
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | (OMIM:614820) |
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES | (OMIM:300887) |
ARIMA SYNDROME | (OMIM:243910) |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
ASPARAGINE SYNTHETASE DEFICIENCY | (OMIM:615574) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 | (OMIM:615919) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Adams-Oliver syndrome | (Orphanet:974) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Aicardi-Goutières syndrome | (Orphanet:51) |
Aldosterone-producing adenoma with seizures and neurological abnormalities | (Orphanet:369929) |
Alpers syndrome | (Orphanet:726) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alström syndrome | (Orphanet:64) |
Amelo-cerebro-hypohidrotic syndrome | (Orphanet:1946) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Angelman syndrome | (Orphanet:72) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Arginine:glycine amidinotransferase deficiency | (Orphanet:35704) |
Argininemia | (Orphanet:90) |
Argininosuccinic aciduria | (Orphanet:23) |
Aromatic L-amino acid decarboxylase deficiency | (Orphanet:35708) |
Arterial calcification, generalized, of infancy, 1 | (OMIM:208000) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
Atypical Rett syndrome | (Orphanet:3095) |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome | (Orphanet:370943) |
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | (Orphanet:308410) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant spastic paraplegia type 9 | (Orphanet:100990) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit | (Orphanet:284282) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
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 2B | (Orphanet:357064) |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | (Orphanet:254334) |
Autosomal recessive limb-girdle muscular dystrophy type 2M | (Orphanet:206554) |
Autosomal recessive limb-girdle muscular dystrophy type 2P | (Orphanet:280333) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
Autosomal recessive spastic paraplegia type 20 | (Orphanet:101000) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
Autosomal recessive spastic paraplegia type 53 | (Orphanet:319199) |
Autosomal recessive spastic paraplegia type 54 | (Orphanet:320380) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
B4GALT1-CDG | (Orphanet:79332) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARATELA-SCOTT SYNDROME | (OMIM:300881) |
BARTTER SYNDROME, ANTENATAL, TYPE 1 | (OMIM:601678) |
BARTTER SYNDROME, ANTENATAL, TYPE 2 | (OMIM:241200) |
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION | (OMIM:210050) |
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | (OMIM:615722) |
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY | (OMIM:112370) |
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS | (OMIM:610023) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
BRESEK syndrome | (Orphanet:85284) |
Bangstad syndrome | (Orphanet:1227) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Bardet-Biedl syndrome 14 | (OMIM:615991) |
Bardet-Biedl syndrome 16 | (OMIM:615993) |
Bardet-Biedl syndrome 17 | (OMIM:615994) |
Bardet-Biedl syndrome 2 | (OMIM:615981) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Bardet-Biedl syndrome 6 | (OMIM:605231) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Bardet-Biedl syndrome 8 | (OMIM:615985) |
Bardet-Biedl syndrome 9 | (OMIM:615986) |
Barth syndrome | (Orphanet:111) |
Bartter syndrome | (Orphanet:112) |
Behr syndrome | (Orphanet:1239) |
Benign familial neonatal seizures | (Orphanet:1949) |
Berardinelli-Seip congenital lipodystrophy | (Orphanet:528) |
Beta-propeller protein-associated neurodegeneration | (Orphanet:329284) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bilateral frontal polymicrogyria | (Orphanet:208444) |
Bilateral frontoparietal polymicrogyria | (Orphanet:101070) |
Biotinidase deficiency | (Orphanet:79241) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Bloom syndrome | (Orphanet:125) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Brachytelephalangic chondrodysplasia punctata | (Orphanet:79345) |
Brain-lung-thyroid syndrome | (Orphanet:209905) |
C syndrome | (Orphanet:1308) |
CADDS | (Orphanet:369942) |
CAMOS syndrome | (Orphanet:83472) |
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III | (OMIM:611929) |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1 | (OMIM:604377) |
CARDIOFACIOCUTANEOUS SYNDROME 2 | (OMIM:615278) |
CARDIOFACIOCUTANEOUS SYNDROME 3 | (OMIM:615279) |
CARDIOFACIOCUTANEOUS SYNDROME 4 | (OMIM:615280) |
CATEL-MANZKE SYNDROME | (OMIM:616145) |
CEDNIK syndrome | (Orphanet:66631) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 | (OMIM:610185) |
CEREBELLOFACIODENTAL SYNDROME | (OMIM:616202) |
CEREBROOCULOFACIOSKELETAL SYNDROME 2 | (OMIM:610756) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | (OMIM:302950) |
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY | (OMIM:215510) |
CHROMOSOME 15q11.2 DELETION SYNDROME | (OMIM:615656) |
CHROMOSOME 15q25 DELETION SYNDROME | (OMIM:614294) |
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED | (OMIM:136570) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 17p13.1 DELETION SYNDROME | (OMIM:613776) |
CHROMOSOME 1p32-p31 DELETION SYNDROME | (OMIM:613735) |
CHROMOSOME 22q13 DUPLICATION SYNDROME | (OMIM:615538) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CHROMOSOME 5q12 DELETION SYNDROME | (OMIM:615668) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CK syndrome | (Orphanet:251383) |
CLN1 disease | (Orphanet:228329) |
CLN7 disease | (Orphanet:228366) |
CODAS syndrome | (Orphanet:1458) |
COG1-CDG | (Orphanet:263508) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | (OMIM:615917) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 | (OMIM:615918) |
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY | (OMIM:616266) |
CONGENITAL DISORDER OF DEGLYCOSYLATION | (OMIM:615273) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl | (OMIM:614576) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy | (OMIM:300934) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 3 | (OMIM:610759) |
CORNELIA DE LANGE SYNDROME 4 | (OMIM:614701) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 | (OMIM:615282) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 | (OMIM:615411) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 | (OMIM:615412) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 | (OMIM:615763) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 | (OMIM:615771) |
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS | (OMIM:608279) |
CREE MENTAL RETARDATION SYNDROME | (OMIM:606851) |
CULLER-JONES SYNDROME | (OMIM:615849) |
Camptodactyly - tall stature - scoliosis - hearing loss | (Orphanet:85164) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cataract-congenital heart disease-neural tube defect syndrome | (Orphanet:314993) |
Catel-Manzke syndrome | (Orphanet:1388) |
Cerebellar ataxia, Cayman type | (Orphanet:94122) |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | (Orphanet:293955) |
Choroideremia - deafness - obesity | (Orphanet:1435) |
Christianson syndrome | (Orphanet:85278) |
Citrullinemia type I | (Orphanet:247525) |
Classic maple syrup urine disease | (Orphanet:268145) |
Classical phenylketonuria | (Orphanet:79254) |
Cobblestone lissencephaly without muscular or ocular involvement | (Orphanet:352682) |
Combined immunodeficiency with facio-oculo-skeletal anomalies | (Orphanet:221139) |
Combined malonic and methylmalonic acidemia | (Orphanet:289504) |
Combined oxidative phosphorylation defect type 13 | (Orphanet:319514) |
Combined oxidative phosphorylation defect type 14 | (Orphanet:319519) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Combined oxidative phosphorylation defect type 9 | (Orphanet:319509) |
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay | (Orphanet:330054) |
Congenital cataract-hearing loss-severe developmental delay syndrome | (Orphanet:300313) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital ichthyosis - intellectual deficit - spastic quadriplegia | (Orphanet:352333) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital muscular dystrophy type 1A | (Orphanet:258) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | (Orphanet:329178) |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | (Orphanet:300284) |
Constitutional megaloblastic anemia with severe neurologic disease | (Orphanet:319651) |
Contractures - ectodermal dysplasia - cleft lip/palate | (Orphanet:1484) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Cortical blindness - intellectual deficit - polydactyly | (Orphanet:1389) |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | (Orphanet:300570) |
Costello syndrome | (Orphanet:3071) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Craniotelencephalic dysplasia | (Orphanet:1528) |
Currarino triad | (Orphanet:1552) |
Cutis gyrata - acanthosis nigricans - craniosynostosis | (Orphanet:1555) |
Cystinosis | (Orphanet:213) |
D,L-2-hydroxyglutaric aciduria | (Orphanet:356978) |
D-2-@HYDROXYGLUTARIC ACIDURIA 2 | (OMIM:613657) |
D-2-hydroxyglutaric aciduria | (Orphanet:79315) |
D-glyceric aciduria | (Orphanet:941) |
DDOST-CDG | (Orphanet:300536) |
DEND syndrome | (Orphanet:79134) |
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | (OMIM:606164) |
DIAMOND-BLACKFAN ANEMIA 5 | (OMIM:612528) |
DIGEORGE SYNDROME | (OMIM:188400) |
DK1-CDG | (Orphanet:91131) |
DPAGT1-CDG | (Orphanet:86309) |
DYGGVE-MELCHIOR-CLAUSEN DISEASE | (OMIM:223800) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 | (OMIM:613989) |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 | (OMIM:615190) |
De Barsy syndrome | (Orphanet:2962) |
Dehydratase deficiency | (Orphanet:1578) |
Dent disease type 2 | (Orphanet:93623) |
Desmosterolosis | (Orphanet:35107) |
Developmental delay with autism spectrum disorder and gait instability | (Orphanet:329195) |
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type | (Orphanet:363444) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Dihydropteridine reductase deficiency | (Orphanet:226) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 6p | (Orphanet:96125) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dravet syndrome | (Orphanet:33069) |
Dysequilibrium syndrome | (Orphanet:1766) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
EAST syndrome | (Orphanet:199343) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | (OMIM:130070) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 | (OMIM:615349) |
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY | (OMIM:614520) |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | (OMIM:615369) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 | (OMIM:613721) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | (OMIM:614558) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | (OMIM:615006) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 | (OMIM:615473) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 | (OMIM:615744) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | (OMIM:300672) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 | (OMIM:615833) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 | (OMIM:615859) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 | (OMIM:616056) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 | (OMIM:616139) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | (OMIM:616211) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 | (OMIM:616339) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 | (OMIM:616341) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | (OMIM:613720) |
Early infantile epileptic encephalopathy without suppression burst | (Orphanet:369894) |
Early-onset X-linked optic atrophy | (Orphanet:98890) |
Early-onset parkinsonism - intellectual deficit | (Orphanet:2379) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Emanuel syndrome | (Orphanet:96170) |
Encephalocraniocutaneous lipomatosis | (Orphanet:2396) |
Encephalopathy due to GLUT1 deficiency | (Orphanet:71277) |
Encephalopathy due to hydroxykynureninuria | (Orphanet:79155) |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | (Orphanet:319678) |
Endosteal sclerosis - cerebellar hypoplasia | (Orphanet:85186) |
Epileptic encephalopathy with continuous spike-and-wave during sleep | (Orphanet:725) |
Epileptic encephalopathy with global cerebral demyelination | (Orphanet:353217) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
FANCONI ANEMIA, COMPLEMENTATION GROUP J | (OMIM:609054) |
FANCONI ANEMIA, COMPLEMENTATION GROUP L | (OMIM:614083) |
FG SYNDROME 4 | (OMIM:300422) |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT | (OMIM:600638) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
Familial hemophagocytic lymphohistiocytosis | (Orphanet:540) |
Familial primary hypomagnesemia with normocalcuria and normocalcemia | (Orphanet:34527) |
Fatal infantile cytochrome C oxidase deficiency | (Orphanet:1561) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Fatal multiple mitochondrial dysfunction syndrome | (Orphanet:289573) |
Female restricted epilepsy with intellectual deficit | (Orphanet:101039) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Fumaric aciduria | (Orphanet:24) |
GCS1-CDG | (Orphanet:79330) |
GELEOPHYSIC DYSPLASIA 1 | (OMIM:231050) |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 | (OMIM:616172) |
GM2-gangliosidosis, AB variant | (Orphanet:309246) |
GTP cyclohydrolase I deficiency | (Orphanet:2102) |
Galactose epimerase deficiency | (Orphanet:79238) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gamma-aminobutyric acid transaminase deficiency | (Orphanet:2066) |
Gaucher disease - ophthalmoplegia - cardiovascular calcification | (Orphanet:2072) |
Gaucher disease type 1 | (Orphanet:77259) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
Geleophysic dysplasia | (Orphanet:2623) |
Genitopatellar syndrome | (Orphanet:85201) |
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 acid maltase deficiency, infantile onset | (Orphanet:308552) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | (Orphanet:713) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Griscelli disease | (Orphanet:381) |
Griscelli disease type 1 | (Orphanet:79476) |
Growth deficiency - brachydactyly - dysmorphism | (Orphanet:2055) |
Grubben-de Cock-Borghgraef syndrome | (Orphanet:2101) |
Guanidinoacetate methyltransferase deficiency | (Orphanet:382) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 | (OMIM:267700) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | (OMIM:603553) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 | (OMIM:603552) |
HOLOPROSENCEPHALY 11 | (OMIM:614226) |
HOLOPROSENCEPHALY 2 | (OMIM:157170) |
HOLOPROSENCEPHALY 5 | (OMIM:609637) |
HOLOPROSENCEPHALY 7 | (OMIM:610828) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
HYDROCEPHALUS, NORMAL-PRESSURE | (OMIM:236690) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 | (OMIM:614207) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 | (OMIM:615716) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 | (OMIM:616025) |
Hartnup syndrome | (Orphanet:2116) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Hemolytic anemia due to adenylate kinase deficiency | (Orphanet:86817) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary fructose intolerance | (Orphanet:469) |
Hereditary orotic aciduria | (Orphanet:30) |
Hereditary sensory and autonomic neuropathy type 4 | (Orphanet:642) |
Histidinemia | (Orphanet:2157) |
Holocarboxylase synthetase deficiency | (Orphanet:79242) |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | (Orphanet:395) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | (Orphanet:927) |
Hyperlysinemia due to defect in lysine transport into mitochondria | (OMIM:238710) |
Hyperlysinemia, type I | (OMIM:238700) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hyperprolinemia type 1 | (Orphanet:419) |
Hypertelorism-microtia-facial clefting syndrome | (Orphanet:2213) |
Hypertryptophanemia | (Orphanet:2224) |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | (Orphanet:363694) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Hypotonia - failure to thrive - microcephaly | (Orphanet:79507) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
IMAGe syndrome | (Orphanet:85173) |
IMMUNODEFICIENCY 23 | (OMIM:615816) |
IMMUNODEFICIENCY, COMMON VARIABLE, 10 | (OMIM:615577) |
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY | (OMIM:600546) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Infantile dystonia-parkinsonism | (Orphanet:238455) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Inherited congenital spastic tetraplegia | (Orphanet:210141) |
Intellectual deficit - alacrima - achalasia | (Orphanet:289483) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Intellectual deficit, X-linked, Kroes type | (Orphanet:163961) |
Intellectual deficit, X-linked, Wilson type | (Orphanet:85290) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | (Orphanet:363611) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency | (Orphanet:6) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Isolated growth hormone deficiency type III | (Orphanet:231692) |
Isolated plagiocephaly | (Orphanet:35098) |
Isolated sulfite oxidase deficiency | (Orphanet:99731) |
Isovaleric acidemia | (Orphanet:33) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 15 | (OMIM:614464) |
Joubert syndrome 17 | (OMIM:614615) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 20 | (OMIM:614970) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 22 | (OMIM:615665) |
Joubert syndrome 5 | (OMIM:610188) |
Joubert syndrome 6 | (OMIM:610688) |
Joubert syndrome 8 | (OMIM:612291) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
KBG syndrome | (Orphanet:2332) |
KERATOCONUS POSTICUS CIRCUMSCRIPTUS | (OMIM:244600) |
KETOADIPICACIDURIA | (OMIM:245130) |
Kabuki syndrome | (Orphanet:2322) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Kostmann syndrome | (Orphanet:99749) |
LEUKODYSTROPHY, HYPOMYELINATING, 9 | (OMIM:616140) |
LISSENCEPHALY 6 WITH MICROCEPHALY | (OMIM:616212) |
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA | (OMIM:616342) |
LOEYS-DIETZ SYNDROME 1 | (OMIM:609192) |
LOEYS-DIETZ SYNDROME 2 | (OMIM:610168) |
Landau-Kleffner syndrome | (Orphanet:98818) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Leber congenital amaurosis 11 | (OMIM:613837) |
Leber plus disease | (Orphanet:99718) |
Leigh syndrome | (Orphanet:506) |
Leigh syndrome with leukodystrophy | (Orphanet:255241) |
Leprechaunism | (Orphanet:508) |
Lesch-Nyhan syndrome | (Orphanet:510) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | (Orphanet:137639) |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | (Orphanet:314051) |
Lissencephaly due to LIS1 mutation | (Orphanet:95232) |
Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
Lowry-MacLean syndrome | (Orphanet:2409) |
Lymphangioleiomyomatosis | (Orphanet:538) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | (OMIM:248000) |
MEDNIK syndrome | (Orphanet:171851) |
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 | (OMIM:615938) |
MEGDEL syndrome | (Orphanet:352328) |
MEIER-GORLIN SYNDROME 5 | (OMIM:613805) |
MELAS | (Orphanet:550) |
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 17 | (OMIM:615009) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 | (OMIM:615074) |
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 30 | (OMIM:616083) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 | (OMIM:616158) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | (OMIM:612621) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | (OMIM:614255) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | (OMIM:614202) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 | (OMIM:607417) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | (OMIM:614340) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 | (OMIM:608443) |
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 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, X-LINKED 101 | (OMIM:300928) |
MENTAL RETARDATION, X-LINKED 72 | (OMIM:300271) |
MENTAL RETARDATION, X-LINKED 89 | (OMIM:300848) |
MENTAL RETARDATION, X-LINKED 90 | (OMIM:300850) |
MENTAL RETARDATION, X-LINKED 91 | (OMIM:300577) |
MENTAL RETARDATION, X-LINKED 99 | (OMIM:300919) |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE | (OMIM:300861) |
MERRF | (Orphanet:551) |
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | (OMIM:249900) |
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY | (OMIM:614105) |
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS | (OMIM:604317) |
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:604804) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | (OMIM:616335) |
MICROCEPHALY WITH SPASTIC QUADRIPLEGIA | (OMIM:251280) |
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE | (OMIM:601420) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | (OMIM:613668) |
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY | (OMIM:615760) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES | (OMIM:607597) |
MICROPHTHALMIA, SYNDROMIC 11 | (OMIM:614402) |
MICROPHTHALMIA, SYNDROMIC 13 | (OMIM:300915) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | (OMIM:615157) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615159) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | (OMIM:615824) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 | (OMIM:616111) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | (OMIM:613662) |
MITOCHONDRIAL MYOPATHY | (OMIM:251900) |
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | (OMIM:614741) |
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | (OMIM:616277) |
MOVED TO 614732 | (OMIM:300290) |
MPDU1-CDG | (Orphanet:79323) |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 | (OMIM:605711) |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 | (OMIM:614299) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 | (OMIM:615181) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 | (OMIM:615287) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 | (OMIM:615350) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 | (OMIM:614830) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 | (OMIM:613155) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 | (OMIM:608840) |
MYASTHENIC SYNDROME, CONGENITAL, 18 | (OMIM:616330) |
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY | (OMIM:601347) |
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET | (OMIM:609500) |
Macrocephaly-autism syndrome | (Orphanet:210548) |
Malonic aciduria | (Orphanet:943) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Maple syrup urine disease | (Orphanet:511) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfanoid habitus - intellectual deficit, autosomal recessive | (Orphanet:2463) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
Medium chain acyl-CoA dehydrogenase deficiency | (Orphanet:42) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Menkes disease | (Orphanet:565) |
Mesomelic dysplasia, Savarirayan type | (Orphanet:85170) |
Methylcobalamin deficiency type cblDv1 | (Orphanet:308380) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
Methylcobalamin deficiency type cblG | (Orphanet:2170) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblD | (Orphanet:79283) |
Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
Mevalonic aciduria | (Orphanet:29) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microlissencephaly | (Orphanet:1083) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
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) |
Mitochondrial trifunctional protein deficiency | (Orphanet:746) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 9p | (Orphanet:261112) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | (Orphanet:280679) |
Mucolipidosis type 2 | (Orphanet:576) |
Mucolipidosis type 4 | (Orphanet:578) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Muenke syndrome | (Orphanet:53271) |
Mulibrey nanism | (Orphanet:2576) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple endocrine neoplasia type 2B | (Orphanet:247709) |
Multiple sulfatase deficiency | (Orphanet:585) |
Muscle-eye-brain disease | (Orphanet:588) |
Myopathy and diabetes mellitus | (Orphanet:2596) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
N-ACETYLASPARTATE DEFICIENCY | (OMIM:614063) |
NARP syndrome | (Orphanet:644) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | (OMIM:256600) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC | (OMIM:614213) |
NIEMANN-PICK DISEASE, TYPE C1 | (OMIM:257220) |
NIEMANN-PICK DISEASE, TYPE C2 | (OMIM:607625) |
NOONAN SYNDROME 3 | (OMIM:609942) |
NOONAN SYNDROME 5 | (OMIM:611553) |
Navajo neurohepatopathy | (Orphanet:255229) |
Nephronophthisis 15 | (OMIM:614845) |
Nephronophthisis 2 | (OMIM:602088) |
Nephronophthisis-like nephropathy 1 | (OMIM:613159) |
Netherton syndrome | (Orphanet:634) |
Neurocutaneous melanocytosis | (Orphanet:2481) |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | (Orphanet:88639) |
Neurodegeneration with brain iron accumulation due to C19orf12 mutation | (Orphanet:289560) |
Neuroectodermal melanolysosomal disease | (Orphanet:33445) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Neurological conditions associated with aminoacylase 1 deficiency | (Orphanet:137754) |
Niemann-Pick disease type A | (Orphanet:77292) |
Niemann-Pick disease type C | (Orphanet:646) |
Non-progressive cerebellar ataxia with intellectual deficit | (Orphanet:314647) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS | (OMIM:257790) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSTEOGENESIS IMPERFECTA, TYPE VIII | (OMIM:610915) |
OSTEOGENESIS IMPERFECTA, TYPE XV | (OMIM:615220) |
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA | (OMIM:615198) |
Occipital pachygyria and polymicrogyria | (Orphanet:280640) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Orofaciodigital syndrome type 9 | (Orphanet:141007) |
Osteocraniostenosis | (Orphanet:2763) |
Osteopetrosis - hypogammaglobulinemia | (Orphanet:178389) |
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS | (OMIM:600399) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE | (OMIM:608097) |
PERIVENTRICULAR NODULAR HETEROTOPIA 6 | (OMIM:615544) |
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | (OMIM:616154) |
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | (OMIM:614883) |
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) | (OMIM:614886) |
PEROXISOME BIOGENESIS DISORDER 1B | (OMIM:601539) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PEROXISOME BIOGENESIS DISORDER 4B | (OMIM:614863) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PEROXISOME BIOGENESIS DISORDER 5B | (OMIM:614867) |
PEROXISOME BIOGENESIS DISORDER 6B | (OMIM:614871) |
PEROXISOME BIOGENESIS DISORDER 7B | (OMIM:614873) |
PEROXISOME BIOGENESIS DISORDER 8B | (OMIM:614877) |
PHACE syndrome | (Orphanet:42775) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
PMM2-CDG | (Orphanet:79318) |
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY | (OMIM:611087) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | (OMIM:607596) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | (OMIM:616081) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | (OMIM:613811) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | (OMIM:615851) |
PORENCEPHALY 2 | (OMIM:614483) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 | (OMIM:609286) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 | (OMIM:610131) |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM | (OMIM:614501) |
Pachygyria - epilepsy - intellectual deficit - dysmorphism | (Orphanet:94084) |
Pachygyria - intellectual deficit - epilepsy | (Orphanet:2798) |
Pancreatic hypoplasia - diabetes - congenital heart disease | (Orphanet:2255) |
Pancreatic insufficiency - anemia - hyperostosis | (Orphanet:199337) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Paraplegia - brachydactyly - cone-shaped epiphysis | (Orphanet:2823) |
Paroxysmal exertion-induced dyskinesia | (Orphanet:98811) |
Partial acquired lipodystrophy | (Orphanet:79087) |
Pelizaeus-Merzbacher-like disease | (Orphanet:280270) |
Pelizaeus-Merzbacher-like due to GJC2 mutation | (Orphanet:280282) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Pellagra-like skin rash-neurological manifestations | (Orphanet:2837) |
Perlman syndrome | (Orphanet:2849) |
Permanent neonatal diabetes mellitus | (Orphanet:99885) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Perrault Syndrome 1 | (OMIM:233400) |
Phosphoenolpyruvate carboxykinase 1 deficiency | (Orphanet:79316) |
Phosphoserine aminotransferase deficiency | (Orphanet:284417) |
Pili torti - developmental delay - neurological abnormalities | (Orphanet:2891) |
Polymicrogyria due to TUBB2B mutation | (Orphanet:300573) |
Polymicrogyria with optic nerve hypoplasia | (Orphanet:250972) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 1 | (Orphanet:2254) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |
Pontocerebellar hypoplasia type 7 | (Orphanet:284339) |
Pontocerebellar hypoplasia type 8 | (Orphanet:324569) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | (Orphanet:306547) |
Prader-Willi syndrome | (Orphanet:739) |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | (Orphanet:306558) |
Primordial short stature - microdontia - opalescent and rootless teeth | (Orphanet:46658) |
Progressive myoclonic epilepsy with dystonia | (Orphanet:352596) |
Prolidase deficiency | (Orphanet:742) |
Prominent glabella - microcephaly - hypogenitalism | (Orphanet:2083) |
Propionic acidemia | (Orphanet:35) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | (Orphanet:88618) |
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 E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
Qazi-Markouizos syndrome | (Orphanet:3010) |
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME | (OMIM:616108) |
RFT1-CDG | (Orphanet:244310) |
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL | (OMIM:614498) |
Rabson-Mendenhall syndrome | (Orphanet:769) |
Radio-ulnar synostosis - intellectual deficit - hypotonia | (Orphanet:3270) |
Recessive hereditary methemoglobinemia type 1 | (Orphanet:139373) |
Recessive hereditary methemoglobinemia type 2 | (Orphanet:139380) |
Recombinant 8 syndrome | (Orphanet:96167) |
Recurrent infections-myelofibrosis-nephromegaly syndrome | (Orphanet:369852) |
Renal cysts and diabetes syndrome | (Orphanet:93111) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Retinopathy - anemia- central nervous system anomalies | (Orphanet:3088) |
Ribose 5-phosphate isomerase deficiency | (OMIM:608611) |
Richards-Rundle syndrome | (Orphanet:1399) |
Richieri Costa-Pereira syndrome | (Orphanet:3102) |
Roifman syndrome | (Orphanet:353298) |
Rolandic epilepsy - speech dyspraxia | (Orphanet:163721) |
Rosselli-Gulienetti syndrome | (Orphanet:90339) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | (Orphanet:353284) |
SC PHOCOMELIA SYNDROME | (OMIM:269000) |
SCHAAF-YANG SYNDROME | (OMIM:615547) |
SECKEL SYNDROME 6 | (OMIM:614728) |
SECKEL SYNDROME 8 | (OMIM:615807) |
SENER SYNDROME | (OMIM:606156) |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY | (OMIM:616084) |
SILVER-RUSSELL SYNDROME | (OMIM:180860) |
SLC35A2-CDG | (Orphanet:356961) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | (OMIM:614066) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | (OMIM:614067) |
SPECIFIC LANGUAGE IMPAIRMENT 5 | (OMIM:615432) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 | (OMIM:616127) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 | (OMIM:616204) |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES | (OMIM:600093) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
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) |
Saccharopinuria | (Orphanet:3124) |
Salla disease | (Orphanet:309334) |
Scheie syndrome | (Orphanet:93474) |
Senior-Boichis syndrome | (Orphanet:84081) |
Senior-Loken syndrome 9 | (OMIM:616629) |
Septo-optic dysplasia | (Orphanet:3157) |
Severe X-linked mitochondrial encephalomyopathy | (Orphanet:238329) |
Severe combined immunodeficiency due to CORO1A deficiency | (Orphanet:228003) |
Severe combined immunodeficiency due to adenosine deaminase deficiency | (Orphanet:277) |
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) |
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Shwachman-Diamond syndrome | (Orphanet:811) |
Sialuria | (Orphanet:3166) |
Silver-Russell syndrome | (Orphanet:813) |
Smith-Magenis syndrome | (Orphanet:819) |
Sotos syndrome | (Orphanet:821) |
Spectrin-associated autosomal recessive cerebellar ataxia | (Orphanet:352403) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 21 | (Orphanet:98773) |
Spinocerebellar ataxia type 5 | (Orphanet:98766) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Steinert myotonic dystrophy | (Orphanet:273) |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | (Orphanet:206546) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |
Syndromic multisystem autoimmune disease due to Itch deficiency | (Orphanet:228426) |
TARP syndrome | (Orphanet:2886) |
TEMPLE-BARAITSER SYNDROME | (OMIM:611816) |
TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 | (OMIM:187395) |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | (OMIM:612304) |
THYROXINE-BINDING GLOBULIN OF SERUM | (OMIM:314200) |
TMCO1 defect syndrome | (Orphanet:228407) |
TMEM165-CDG | (Orphanet:314667) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
Temtamy syndrome | (Orphanet:1777) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thiamine-responsive encephalopathy | (Orphanet:199348) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Thoracic dysplasia-hydrocephalus syndrome | (Orphanet:1861) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Timothy syndrome | (Orphanet:65283) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Transaldolase deficiency | (Orphanet:101028) |
Transketolase deficiency | (ORPHA:488618) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
Triose phosphate-isomerase deficiency | (Orphanet:868) |
Triple A syndrome | (Orphanet:869) |
Tyrosinemia type 2 | (Orphanet:28378) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
VERHEIJ SYNDROME | (OMIM:615583) |
VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION | (OMIM:277465) |
Vici syndrome | (Orphanet:1493) |
Vitamin B12-responsive methylmalonic acidemia | (Orphanet:28) |
Vitamin B12-responsive methylmalonic acidemia type cblA | (Orphanet:79310) |
Vitamin B12-responsive methylmalonic acidemia type cblB | (Orphanet:79311) |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | (Orphanet:308442) |
Vitamin B12-unresponsive methylmalonic acidemia | (Orphanet:27) |
Vitamin B12-unresponsive methylmalonic acidemia type mut- | (Orphanet:79312) |
Vitamin B12-unresponsive methylmalonic acidemia type mut0 | (Orphanet:289916) |
WAARDENBURG SYNDROME, TYPE 2E | (OMIM:611584) |
WEBB-DATTANI SYNDROME | (OMIM:615926) |
Waardenburg-Shah syndrome | (Orphanet:897) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weaver syndrome | (Orphanet:3447) |
Weissenbacher- Zweymuller syndrome | (Orphanet:3450) |
West syndrome | (Orphanet:3451) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
Woodhouse-Sakati syndrome | (Orphanet:3464) |
X-linked Opitz G/BBB syndrome | (Orphanet:306597) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | (Orphanet:324410) |
X-linked reticulate pigmentary disorder with systemic manifestations | (Orphanet:85453) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
Xq27.3q28 duplication syndrome | (Orphanet:261483) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 | (OMIM:616198) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |