Infantile muscular hypotonia
Symptom Information:
Symptom ID: | HPO:0008947 | ||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||
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 musculature(HPO:0003011) Abnormality of muscle physiology(HPO:0011804) Abnormal muscle tone(HPO:0003808) Muscular hypotonia(HPO:0001252) Infantile muscular hypotonia(HPO:0008947) MedDRA: |
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Database Frequency: | 482 / 7739 | ||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q11 microdeletion syndrome | (Orphanet:97685) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
1p36 deletion syndrome | (Orphanet:1606) |
2-methylbutyryl-CoA dehydrogenase deficiency | (Orphanet:79157) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p21 microdeletion syndrome | (Orphanet:163693) |
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | (OMIM:231530) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | (OMIM:210200) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY | (OMIM:210210) |
3C syndrome | (Orphanet:7) |
4-hydroxybutyric aciduria | (Orphanet:22) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5p13 microduplication syndrome | (Orphanet:329802) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY | (OMIM:614055) |
ACETYL-CoA CARBOXYLASE DEFICIENCY | (OMIM:613933) |
ADAMS-OLIVER SYNDROME 1 | (OMIM:100300) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA | (OMIM:613623) |
AICA-ribosiduria | (Orphanet:250977) |
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | (OMIM:615510) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG1-CDG | (Orphanet:79327) |
ALG13-CDG | (Orphanet:324422) |
ARIMA SYNDROME | (OMIM:243910) |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
ATAXIA-MICROCEPHALY-CATARACT SYNDROME | (OMIM:208870) |
ATONIC-ASTATIC SYNDROME OF FOERSTER | (OMIM:209100) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Achondroplasia | (Orphanet:15) |
Acid phosphatase deficiency | (Orphanet:35121) |
Acrocallosal syndrome | (Orphanet:36) |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | (Orphanet:217371) |
Acyl-CoA dehydrogenase 9 deficiency | (Orphanet:99901) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Aicardi syndrome | (Orphanet:50) |
Alpers syndrome | (Orphanet:726) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Angelman syndrome | (Orphanet:72) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Antenatal multiminicore disease with arthrogryposis multiplex congenita | (Orphanet:178148) |
Arnold-Chiari malformation type II | (Orphanet:1136) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Aspartylglucosaminuria | (Orphanet:93) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome | (Orphanet:370943) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal recessive ataxia due to ubiquinone deficiency | (Orphanet:139485) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive infantile hypercalcemia | (Orphanet:300547) |
Autosomal recessive limb-girdle muscular dystrophy type 2M | (Orphanet:206554) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive limb-girdle muscular dystrophy type 2T | (Orphanet:363623) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
B4GALT1-CDG | (Orphanet:79332) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARTTER SYNDROME, TYPE 4A | (OMIM:602522) |
BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY | (OMIM:210550) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Beta-mannosidosis | (Orphanet:118) |
Biotinidase deficiency | (Orphanet:79241) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Brain-lung-thyroid syndrome | (Orphanet:209905) |
C syndrome | (Orphanet:1308) |
CACH syndrome | (Orphanet:135) |
CAMPOMELIC DYSPLASIA | (OMIM:114290) |
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III | (OMIM:611929) |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1 | (OMIM:604377) |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2 | (OMIM:615119) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:300619) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY | (OMIM:215510) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 17p13.1 DELETION SYNDROME | (OMIM:613776) |
CHROMOSOME 1p32-p31 DELETION SYNDROME | (OMIM:613735) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CK syndrome | (Orphanet:251383) |
CLN1 disease | (Orphanet:228329) |
CODAS syndrome | (Orphanet:1458) |
COG4-CDG | (Orphanet:263501) |
CONGENITAL DISORDER OF DEGLYCOSYLATION | (OMIM:615273) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carnitine palmitoyl transferase 1A deficiency | (Orphanet:156) |
Carnitine uptake deficiency | (Orphanet:158) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cerebellar ataxia, Cayman type | (Orphanet:94122) |
Cerebellar hypoplasia - tapetoretinal degeneration | (Orphanet:2246) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | (Orphanet:293955) |
Christianson syndrome | (Orphanet:85278) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Classic maple syrup urine disease | (Orphanet:268145) |
Classic multiminicore myopathy | (Orphanet:324604) |
Cobblestone lissencephaly without muscular or ocular involvement | (Orphanet:352682) |
Coffin-Lowry syndrome | (Orphanet:192) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 11 | (Orphanet:324535) |
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) |
Congenital brain dysgenesis due to glutamine synthetase deficiency | (Orphanet:71278) |
Congenital cataract-hearing loss-severe developmental delay syndrome | (Orphanet:300313) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital muscular dystrophy type 1A | (Orphanet:258) |
Congenital muscular dystrophy with integrin alpha-7 deficiency | (Orphanet:34520) |
Congenital myopathy with internal nuclei and atypical cores | (Orphanet:319160) |
Congenital or early infantile CACH syndrome | (Orphanet:157713) |
Constitutional megaloblastic anemia with severe neurologic disease | (Orphanet:319651) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Cree leukoencephalopathy | (Orphanet:99854) |
D-2-@HYDROXYGLUTARIC ACIDURIA 1 | (OMIM:600721) |
DDOST-CDG | (Orphanet:300536) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
DPAGT1-CDG | (Orphanet:86309) |
DPM1-CDG | (Orphanet:79322) |
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | (OMIM:128100) |
Dejerine-Sottas syndrome | (Orphanet:64748) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Developmental delay with autism spectrum disorder and gait instability | (Orphanet:329195) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 6p | (Orphanet:96125) |
Dubowitz syndrome | (Orphanet:235) |
Duchenne muscular dystrophy | (Orphanet:98896) |
EAST syndrome | (Orphanet:199343) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
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) |
EPILEPSY, HOT WATER, 1 | (OMIM:613339) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | (OMIM:614558) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 | (OMIM:614959) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | (OMIM:615006) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | (OMIM:300672) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | (OMIM:612164) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 | (OMIM:613477) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | (OMIM:613720) |
Early infantile epileptic encephalopathy without suppression burst | (Orphanet:369894) |
Ehlers-Danlos syndrome type 1 | (Orphanet:90309) |
Ehlers-Danlos syndrome type 7A | (Orphanet:99875) |
Ehlers-Danlos syndrome type 7B | (Orphanet:99876) |
Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
Ehlers-Danlos syndrome, classic type | (Orphanet:287) |
Ehlers-Danlos syndrome, kyphoscoliotic type | (Orphanet:1900) |
Emanuel syndrome | (Orphanet:96170) |
Encephalopathy due to prosaposin deficiency | (Orphanet:139406) |
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts | (OMIM:225740) |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | (Orphanet:319678) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS | (OMIM:227255) |
Familial dysautonomia | (Orphanet:1764) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Fetal akinesia-cerebral and retinal hemorrhage syndrome | (Orphanet:363409) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Fructose-1,6-bisphosphatase deficiency | (Orphanet:348) |
Fumaric aciduria | (Orphanet:24) |
GCS1-CDG | (Orphanet:79330) |
GLYCOGEN STORAGE DISEASE IXc | (OMIM:613027) |
GM2-gangliosidosis, AB variant | (Orphanet:309246) |
Galactose epimerase deficiency | (Orphanet:79238) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Genitopatellar syndrome | (Orphanet:85201) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
Glycine encephalopathy | (Orphanet:407) |
Glycogen storage disease due to acid maltase deficiency | (Orphanet:365) |
Glycogen storage disease due to glycogen branching enzyme deficiency | (Orphanet:367) |
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | (Orphanet:308712) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | (Orphanet:308684) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | (Orphanet:308698) |
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | (Orphanet:308670) |
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | (Orphanet:308655) |
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | (Orphanet:308638) |
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | (Orphanet:308621) |
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | (Orphanet:79240) |
Griscelli disease type 1 | (Orphanet:79476) |
Grubben-de Cock-Borghgraef syndrome | (Orphanet:2101) |
Guanidinoacetate methyltransferase deficiency | (Orphanet:382) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 | (OMIM:267700) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | (OMIM:603553) |
HOLOPROSENCEPHALY 2 | (OMIM:157170) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | (OMIM:239300) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | (OMIM:614749) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 | (OMIM:614207) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary hypophosphatemic rickets with hypercalciuria | (Orphanet:157215) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holocarboxylase synthetase deficiency | (Orphanet:79242) |
Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
Hyperlysinemia, type I | (OMIM:238700) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hyperprolinemia type 1 | (Orphanet:419) |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | (Orphanet:363694) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Hypotonia with lactic acidemia and hyperammonemia | (Orphanet:137908) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile hypophosphatasia | (Orphanet:247651) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | (Orphanet:284332) |
Intellectual deficiency - hypotonia - spasticity - sleep disorder | (Orphanet:356996) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked, Kroes type | (Orphanet:163961) |
Intellectual deficit, X-linked, Snyder type | (Orphanet:3063) |
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) |
Intellectual disability-strabismus syndrome | (Orphanet:363528) |
Intermittent maple syrup urine disease | (Orphanet:268173) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated sulfite oxidase deficiency | (Orphanet:99731) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 15 | (OMIM:614464) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome 5 | (OMIM:610188) |
Joubert syndrome 6 | (OMIM:610688) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Juvenile or adult CACH syndrome | (Orphanet:157719) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KETOADIPICACIDURIA | (OMIM:245130) |
Kaler-Garrity-Stern syndrome | (Orphanet:2324) |
Kleefstra syndrome | (Orphanet:261494) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LESCH-NYHAN SYNDROME | (OMIM:300322) |
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA | (OMIM:608809) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
Langer-Giedion syndrome | (Orphanet:502) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Late infantile CACH syndrome | (Orphanet:157716) |
Lathosterolosis | (Orphanet:46059) |
Legius syndrome | (Orphanet:137605) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
Leukocyte adhesion deficiency type II | (Orphanet:99843) |
Lissencephaly due to TUBA1A mutation | (Orphanet:171680) |
Lysinuric protein intolerance | (Orphanet:470) |
MEDNIK syndrome | (Orphanet:171851) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION | (OMIM:613926) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | (OMIM:612621) |
MENTAL RETARDATION, X-LINKED 93 | (OMIM:300659) |
METACHROMATIC LEUKODYSTROPHY | (OMIM:250100) |
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | (OMIM:249900) |
MGAT2-CDG | (Orphanet:79329) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615159) |
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) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MPI-CDG | (Orphanet:79319) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 | (OMIM:614643) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 | (OMIM:614830) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 | (OMIM:608840) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 | (OMIM:613152) |
MYASTHENIC SYNDROME, CONGENITAL, 13 | (OMIM:614750) |
Malonic aciduria | (Orphanet:943) |
Marden-Walker syndrome | (Orphanet:2461) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall-Smith syndrome | (Orphanet:561) |
Medium chain acyl-CoA dehydrogenase deficiency | (Orphanet:42) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Methylcobalamin deficiency type cblDv1 | (Orphanet:308380) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
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 cblF | (Orphanet:79284) |
Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
Mevalonic aciduria | (Orphanet:29) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | (Orphanet:329332) |
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 DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Mitochondrial DNA depletion syndrome, myopathic form | (Orphanet:254875) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
Mitochondrial trifunctional protein deficiency | (Orphanet:746) |
Moebius syndrome | (Orphanet:570) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 9p | (Orphanet:261112) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucolipidosis type 4 | (Orphanet:578) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple endocrine neoplasia type 2B | (Orphanet:247709) |
Myoclonus-dystonia syndrome | (Orphanet:36899) |
Myopathy and diabetes mellitus | (Orphanet:2596) |
NEMALINE MYOPATHY 4 | (OMIM:609285) |
NEMALINE MYOPATHY 7 | (OMIM:610687) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | (OMIM:256600) |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA | (OMIM:201300) |
NIEMANN-PICK DISEASE, TYPE C1 | (OMIM:257220) |
NIEMANN-PICK DISEASE, TYPE C2 | (OMIM:607625) |
Navajo neurohepatopathy | (Orphanet:255229) |
Neonatal severe primary hyperparathyroidism | (Orphanet:417) |
Neuroectodermal melanolysosomal disease | (Orphanet:33445) |
Neurological conditions associated with aminoacylase 1 deficiency | (Orphanet:137754) |
Neutral lipid storage myopathy | (Orphanet:98908) |
Niemann-Pick disease type A | (Orphanet:77292) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSTEOGENESIS IMPERFECTA, TYPE XIII | (OMIM:614856) |
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA | (OMIM:615198) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Omphalocele syndrome, Shprintzen-Goldberg type | (Orphanet:3164) |
Opsismodysplasia | (Orphanet:2746) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
Ovarioleukodystrophy | (Orphanet:99853) |
Oxoglutaricaciduria | (Orphanet:31) |
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS | (OMIM:600399) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE | (OMIM:608097) |
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | (OMIM:614883) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES | (OMIM:602196) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PMM2-CDG | (Orphanet:79318) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | (OMIM:607596) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 | (OMIM:610131) |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM | (OMIM:614501) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Pierson syndrome | (Orphanet:2670) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |
Pontocerebellar hypoplasia type 7 | (Orphanet:284339) |
Pontocerebellar hypoplasia type 8 | (Orphanet:324569) |
Porphyria due to ALA dehydratase deficiency | (Orphanet:100924) |
Primary CD59 deficiency | (Orphanet:169464) |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | (Orphanet:306558) |
Progressive myoclonic epilepsy with dystonia | (Orphanet:352596) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
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 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase lipoic acid synthetase deficiency | (OMIM:614462) |
Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Rigid spine syndrome | (Orphanet:97244) |
Roifman syndrome | (Orphanet:353298) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SLC35A2-CDG | (Orphanet:356961) |
SRD5A3-CDG | (Orphanet:324737) |
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL | (OMIM:500003) |
Salla disease | (Orphanet:309334) |
Severe X-linked mitochondrial encephalomyopathy | (Orphanet:238329) |
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) |
Sialidosis type 1 | (Orphanet:812) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Singleton-Merten dysplasia | (Orphanet:85191) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 1 | (Orphanet:98755) |
Spinocerebellar ataxia type 13 | (Orphanet:98768) |
Spinocerebellar ataxia type 2 | (Orphanet:98756) |
Spinocerebellar ataxia type 5 | (Orphanet:98766) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Spondylometaphyseal dysplasia, Sedaghatian type | (Orphanet:93317) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Steinert myotonic dystrophy | (Orphanet:273) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Synaptic congenital myasthenic syndromes | (Orphanet:98915) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |
TEMPLE-BARAITSER SYNDROME | (OMIM:611816) |
TMCO1 defect syndrome | (Orphanet:228407) |
TMEM165-CDG | (Orphanet:314667) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I | (OMIM:190350) |
TRICHORRHEXIS NODOSA SYNDROME | (OMIM:275550) |
Tay-Sachs disease | (Orphanet:845) |
Temtamy syndrome | (Orphanet:1777) |
Tetrasomy 12p | (Orphanet:884) |
Thiamine-responsive maple syrup urine disease | (Orphanet:268184) |
Thyroid hemiagenesis | (Orphanet:95719) |
Toriello-Carey syndrome | (Orphanet:3338) |
Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
VISCERAL STEATOSIS, CONGENITAL | (OMIM:228100) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | (OMIM:264700) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B | (OMIM:600081) |
VITAMIN D-DEPENDENT RICKETS, TYPE 2A | (OMIM:277440) |
Very long chain acyl-CoA dehydrogenase deficiency | (Orphanet:26793) |
Vici syndrome | (Orphanet:1493) |
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) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weaver syndrome | (Orphanet:3447) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Williams syndrome | (Orphanet:904) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |
XYLOSIDASE DEFICIENCY | (OMIM:278900) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zimmermann-Laband syndrome | (Orphanet:3473) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |