Muscle flaccidity

Symptom Information:

Symptom ID: HPO:0010547
Synonyms:
Flaccid paralysis [Orphanet:44150]
Flaccidity - muscle (finding) [Orphanet:44150]
Flaccidity (qualifier value) [Orphanet:44150]
Flaccid paralysis (finding) [Orphanet:44150]
Flaccid Muscle Tone [Orphanet:44150]
Muscle weakness/flaccidity [Orphanet:44150]
Muscle tone flaccid [Orphanet:44150]
Paralysis flaccid [Orphanet:44150]
Muscle flaccid [Orphanet:44150]
Hypotonia [MedDRA:10021118]
Abdominal flaccidity [MedDRA:10021118]
Atonia [MedDRA:10021118]
Atony skeletal muscle [MedDRA:10021118]
Decreased muscle tone [MedDRA:10021118]
Flaccidity [MedDRA:10021118]
Flaccidity muscle [MedDRA:10021118]
Floppy [MedDRA:10021118]
M relaxation [MedDRA:10021118]
Muscle flaccid [MedDRA:10021118]
Muscle relaxation [MedDRA:10021118]
Muscle tone decreased [MedDRA:10021118]
Muscle tone flaccid [MedDRA:10021118]
Non-depolarising relaxant [MedDRA:10021118]
Skeletal muscle atony [MedDRA:10021118]
Paralysis flaccid [MedDRA:10033809]
Flaccid paralysis [MedDRA:10033809]
Descending symmetrical flaccid paralysis [MedDRA:10033809]
Flaccidity [OMIM:Flaccidity]
Hypotonia [OMIM:Hypotonia]
Hypotonia (1 patient) [OMIM:Hypotonia (1 patient)]
Hypotonia (2 patients) [OMIM:Hypotonia (2 patients)]
Hypotonia (45%) [OMIM:Hypotonia (45%)]
Hypotonia (96%) [OMIM:Hypotonia (96%)]
Hypotonia (CVS+) [OMIM:Hypotonia (CVS+)]
Hypotonia (HCS and 2p21del) [OMIM:Hypotonia (HCS and 2p21del)]
Hypotonia (congenital form) [OMIM:Hypotonia (congenital form)]
Hypotonia (early infancy) [OMIM:Hypotonia (early infancy)]
Hypotonia (early-onset form) [OMIM:Hypotonia (early-onset form)]
Hypotonia (in 1/4 patients) [OMIM:Hypotonia (in 1/4 patients)]
Hypotonia (in infancy) [OMIM:Hypotonia (in infancy)]
Hypotonia (in males) [OMIM:Hypotonia (in males)]
Hypotonia (in some patients) [OMIM:Hypotonia (in some patients)]
Hypotonia (less common) [OMIM:Hypotonia (less common)]
Hypotonia (mild) [OMIM:Hypotonia (mild)]
Hypotonia (neonatal) [OMIM:Hypotonia (neonatal)]
Hypotonia (newborn) [OMIM:Hypotonia (newborn)]
Hypotonia (rare) [OMIM:Hypotonia (rare)]
Hypotonia (type I and type II, infantile) [OMIM:Hypotonia (type I and type II, infantile)]
Hypotonia (untreated hypothyroidism) [OMIM:Hypotonia (untreated hypothyroidism)]
Quality:
Cross references:
Orphanet:44150 "Muscle weakness/flaccidity" [Orphanet:44150]
OMIM: "Flaccidity" [OMIM:Flaccidity]
OMIM: "Hypotonia" [OMIM:Hypotonia]
OMIM: "Hypotonia (1 patient)" [OMIM:Hypotonia (1 patient)]
OMIM: "Hypotonia (2 patients)" [OMIM:Hypotonia (2 patients)]
OMIM: "Hypotonia (45%)" [OMIM:Hypotonia (45%)]
OMIM: "Hypotonia (96%)" [OMIM:Hypotonia (96%)]
OMIM: "Hypotonia (CVS+)" [OMIM:Hypotonia (CVS+)]
OMIM: "Hypotonia (HCS and 2p21del)" [OMIM:Hypotonia (HCS and 2p21del)]
OMIM: "Hypotonia (congenital form)" [OMIM:Hypotonia (congenital form)]
OMIM: "Hypotonia (early infancy)" [OMIM:Hypotonia (early infancy)]
OMIM: "Hypotonia (early-onset form)" [OMIM:Hypotonia (early-onset form)]
OMIM: "Hypotonia (in 1/4 patients)" [OMIM:Hypotonia (in 1/4 patients)]
OMIM: "Hypotonia (in infancy)" [OMIM:Hypotonia (in infancy)]
OMIM: "Hypotonia (in males)" [OMIM:Hypotonia (in males)]
OMIM: "Hypotonia (in some patients)" [OMIM:Hypotonia (in some patients)]
OMIM: "Hypotonia (less common)" [OMIM:Hypotonia (less common)]
OMIM: "Hypotonia (mild)" [OMIM:Hypotonia (mild)]
OMIM: "Hypotonia (neonatal)" [OMIM:Hypotonia (neonatal)]
OMIM: "Hypotonia (newborn)" [OMIM:Hypotonia (newborn)]
OMIM: "Hypotonia (rare)" [OMIM:Hypotonia (rare)]
OMIM: "Hypotonia (type I and type II, infantile)" [OMIM:Hypotonia (type I and type II, infantile)]
OMIM: "Hypotonia (untreated hypothyroidism)" [OMIM:Hypotonia (untreated hypothyroidism)]
UMLS:C0085620 "Flaccid paralysis" [Orphanet:44150]
UMLS:C0026825 "Flaccid Muscle Tone" [Orphanet:44150]
Is a (Direct Parents):
Orphanet Muscular hypotonia
Orphanet Muscle anomalies
HPO         Muscle weakness
MedDRA Paralysis and paresis (excl cranial nerve)
MedDRA Muscle tone abnormalities
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle physiology(HPO:0011804)
             Muscle weakness(HPO:0001324)
                Muscle flaccidity(HPO:0010547)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Abnormality of movement(HPO:0100022)
       Paralysis and paresis (excl cranial nerve)(MedDRA:10033800)
          Muscle flaccidity(HPO:0010547)
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Muscle disorders(MedDRA:10028302)
       Muscle tone abnormalities(MedDRA:10028343)
          Muscle flaccidity(HPO:0010547)
Database Frequency: 466 / 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)
APNEA, CENTRAL SLEEP (OMIM:207720)
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)
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)
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)
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)
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 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)
Cushing syndrome (Orphanet:553)
Cystinosis (Orphanet:213)
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 7A (Orphanet:99875)
Ehlers-Danlos syndrome type 7B (Orphanet:99876)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
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, 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)
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)
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)
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)
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)
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)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
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)
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)
Maternally-inherited diabetes and deafness (Orphanet:225)
Medium chain acyl-CoA dehydrogenase deficiency (Orphanet:42)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
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)
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)
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)
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 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)
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)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rigid spine syndrome (Orphanet:97244)
Roifman syndrome (Orphanet:353298)
Rosaï-Dorfman disease (Orphanet:158014)
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-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)
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)
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, 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)