Failure to thrive

Symptom Information:

Symptom ID: HPO:0001508
Synonyms:
Poor weight gain [HPO:0001508]
Postnatal failure to thrive [HPO:0001508]
Failure to thrive (disorder) [Orphanet:54070]
Failure to thrive in infant (disorder) [Orphanet:54070]
Failure to thrive (disorder) [Orphanet:53450]
Growth delay (disorder) [Orphanet:53450]
Failure to thrive in infant (disorder) [Orphanet:53450]
Failure to Thrive [Orphanet:54070]
Growth delay [Orphanet:53450]
Failure to Thrive [Orphanet:53450]
Failure to thrive [OMIM:Failure to thrive]
Poor weight gain [OMIM:Poor weight gain]
Postnatal failure to thrive [OMIM:Postnatal failure to thrive]
Weight loss/loss of appetite/break in weight curve/general health alteration [Orphanet:54070]
Failure to thrive/difficulties for feeding in infancy/growth delay [Orphanet:53450]
Failure to thrive [Orphanet:54070]
Failure to thrive [Orphanet:53450]
Failure to thrive [MedDRA:10016165]
Failure-to-thrive [MedDRA:10016165]
Growth failure [MedDRA:10016165]
Failure to thrive (1 patient) [OMIM:Failure to thrive (1 patient)]
Failure to thrive (44% of patients) [OMIM:Failure to thrive (44% of patients)]
Failure to thrive (birth to 6-8 years) (HCS) [OMIM:Failure to thrive (birth to 6-8 years) (HCS)]
Failure to thrive (early infancy) [OMIM:Failure to thrive (early infancy)]
Failure to thrive (in males) [OMIM:Failure to thrive (in males)]
Failure to thrive (in some patients) [OMIM:Failure to thrive (in some patients)]
Failure to thrive (infancy) [OMIM:Failure to thrive (infancy)]
Failure to thrive (seen in recessive form) [OMIM:Failure to thrive (seen in recessive form)]
General health alteration [Orphanet:54070]
Weight gain poor [MedDRA:10047897]
Quality:
Cross references:
HPO:0001510 "Growth delay" [Orphanet:54070]
HPO:0001510 "Growth delay" [Orphanet:53450]
Orphanet:54070 "Weight loss/loss of appetite/break in weight curve/general health alteration" [Orphanet:54070]
Orphanet:53450 "Failure to thrive/difficulties for feeding in infancy/growth delay" [Orphanet:53450]
OMIM: "Failure to thrive" [OMIM:Failure to thrive]
OMIM: "Poor weight gain" [OMIM:Poor weight gain]
OMIM: "Postnatal failure to thrive" [OMIM:Postnatal failure to thrive]
OMIM: "Failure to thrive (1 patient)" [OMIM:Failure to thrive (1 patient)]
OMIM: "Failure to thrive (44% of patients)" [OMIM:Failure to thrive (44% of patients)]
OMIM: "Failure to thrive (birth to 6-8 years) (HCS)" [OMIM:Failure to thrive (birth to 6-8 years) (HCS)]
OMIM: "Failure to thrive (early infancy)" [OMIM:Failure to thrive (early infancy)]
OMIM: "Failure to thrive (in males)" [OMIM:Failure to thrive (in males)]
OMIM: "Failure to thrive (in some patients)" [OMIM:Failure to thrive (in some patients)]
OMIM: "Failure to thrive (infancy)" [OMIM:Failure to thrive (infancy)]
OMIM: "Failure to thrive (seen in recessive form)" [OMIM:Failure to thrive (seen in recessive form)]
UMLS:C0015544 "Failure to Thrive" [Orphanet:54070]
UMLS:C0456070 "Growth delay" [Orphanet:53450]
UMLS:C0015544 "Failure to Thrive" [Orphanet:53450]
Is a (Direct Parents):
MedDRA General nutritional disorders NEC
HPO         Decreased body weight
Orphanet Build/stature/longevity anomalies
MedDRA Infancy, childhood and adolescence psychiatric disorders NEC
Orphanet Health status anomalies
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Abnormality of body weight(HPO:0004323)
             Decreased body weight(HPO:0004325)
                Failure to thrive(HPO:0001508)
MedDRA:
Metabolism and nutrition disorders(MedDRA:10027433)
    Appetite and general nutritional disorders(MedDRA:10003018)
       General nutritional disorders NEC(MedDRA:10018067)
          Failure to thrive(HPO:0001508)
Database Frequency: 454 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
17p11.2 microduplication syndrome (Orphanet:1713)
19q13.11 microdeletion syndrome (Orphanet:217346)
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
2p21 microdeletion syndrome (Orphanet:163693)
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
3-hydroxyisobutyric aciduria (Orphanet:939)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
3C syndrome (Orphanet:7)
3q29 microdeletion syndrome (Orphanet:65286)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG3-CDG (Orphanet:79321)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocallosal syndrome (Orphanet:36)
Acrodermatitis enteropathica, zinc deficiency type (Orphanet:37)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Alpers syndrome (Orphanet:726)
Alström syndrome (Orphanet:64)
Amish infantile epilepsy syndrome (Orphanet:171714)
Apparent mineralocorticoid excess (Orphanet:320)
Arginine:glycine amidinotransferase deficiency (Orphanet:35704)
Argininosuccinic aciduria (Orphanet:23)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autoimmune lymphoproliferative syndrome with recurrent infections (Orphanet:275517)
Autosomal agammaglobulinemia (Orphanet:33110)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive distal renal tubular acidosis without deafness (Orphanet:93609)
Autosomal recessive infantile hypercalcemia (Orphanet:300547)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
BARTTER SYNDROME, ANTENATAL, TYPE 1 (OMIM:601678)
BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)
BARTTER SYNDROME, TYPE 4A (OMIM:602522)
BARTTER SYNDROME, TYPE 4B (OMIM:613090)
BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS (OMIM:211200)
Barth syndrome (Orphanet:111)
Bartter syndrome (Orphanet:112)
Bifunctional enzyme deficiency (Orphanet:300)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Bloom syndrome (Orphanet:125)
Bohring-Opitz syndrome (Orphanet:97297)
C syndrome (Orphanet:1308)
CADDS (Orphanet:369942)
CANDLE syndrome (Orphanet:325004)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME (OMIM:212540)
CEDNIK syndrome (Orphanet:66631)
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
COFS syndrome (Orphanet:1466)
COG4-CDG (Orphanet:263501)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Campomelic dysplasia (Orphanet:140)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnitine uptake deficiency (Orphanet:158)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Cholesteryl ester storage disease (Orphanet:75234)
Chronic respiratory distress with surfactant metabolism deficiency (Orphanet:217566)
Chylomicron retention disease (Orphanet:71)
Citrullinemia type I (Orphanet:247525)
Classic galactosemia (Orphanet:79239)
Classic multiminicore myopathy (Orphanet:324604)
Classical homocystinuria (Orphanet:394)
Combined immunodeficiency due to CRAC channel dysfunction (Orphanet:169090)
Combined immunodeficiency due to ORAI1 deficiency (Orphanet:317428)
Combined immunodeficiency due to ZAP70 deficiency (Orphanet:911)
Combined malonic and methylmalonic acidemia (Orphanet:289504)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Combined oxidative phosphorylation defect type 8 (Orphanet:319504)
Combined oxidative phosphorylation defect type 9 (Orphanet:319509)
Congenital bile acid synthesis defect type 1 (Orphanet:79301)
Congenital bile acid synthesis defect type 2 (Orphanet:79303)
Congenital bile acid synthesis defect type 3 (Orphanet:79302)
Congenital bile acid synthesis defect type 4 (Orphanet:79095)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Congenital chloride diarrhea (Orphanet:53689)
Congenital enteropathy due to enteropeptidase deficiency (Orphanet:168601)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital heart block (Orphanet:60041)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital lethal erythroderma (Orphanet:1954)
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (Orphanet:83620)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy, Ullrich type (Orphanet:75840)
Congenital sucrase-isomaltase deficiency (Orphanet:35122)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Costello syndrome (Orphanet:3071)
Cryptosporidiosis - chronic cholangitis - liver disease (Orphanet:357329)
Cushing disease (Orphanet:96253)
Cushing syndrome (Orphanet:553)
Cystic fibrosis (Orphanet:586)
Cystinosis (Orphanet:213)
D-glyceric aciduria (Orphanet:941)
DDOST-CDG (Orphanet:300536)
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL (OMIM:125800)
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED (OMIM:304800)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DK1-CDG (Orphanet:91131)
DPM1-CDG (Orphanet:79322)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
De Barsy syndrome (Orphanet:2962)
Dent disease type 1 (Orphanet:93622)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Desmosterolosis (Orphanet:35107)
Desquamative interstitial pneumonia (Orphanet:98852)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Distal monosomy 15q (Orphanet:1596)
Distal renal tubular acidosis with anemia (Orphanet:93610)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
EDINBURGH MALFORMATION SYNDROME (OMIM:129850)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
ESOPHAGITIS, EOSINOPHILIC, 1 (OMIM:610247)
ESOPHAGITIS, EOSINOPHILIC, 2 (OMIM:613412)
Ear-patella-short stature syndrome (Orphanet:2554)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Eosinophilic esophagitis (Orphanet:73247)
Ethylmalonic encephalopathy (Orphanet:51188)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial benign copper deficiency (Orphanet:1551)
Familial glucocorticoid deficiency (Orphanet:361)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial hypercholanemia (Orphanet:238475)
Familial hypoaldosteronism (Orphanet:427)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis (Orphanet:31043)
Familial isolated restrictive cardiomyopathy (Orphanet:75249)
Farber lipogranulomatosis (Orphanet:333)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fatal multiple mitochondrial dysfunction syndrome (Orphanet:289573)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Freeman-Sheldon syndrome (Orphanet:2053)
Fucosidosis (Orphanet:349)
Fumaric aciduria (Orphanet:24)
GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
GLUCOCORTICOID DEFICIENCY 4 (OMIM:614736)
GOLGI REASSEMBLY STACKING PROTEIN 1 (OMIM:606867)
Galactose epimerase deficiency (Orphanet:79238)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Generalized juvenile polyposis/juvenile polyposis coli (Orphanet:329971)
Generalized pseudohypoaldosteronism type 1 (Orphanet:171876)
Glucose-galactose malabsorption (Orphanet:35710)
Glutaric acidemia type 3 (Orphanet:35706)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glycogen storage disease due to GLUT2 deficiency (Orphanet:2088)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
Glycogen storage disease due to glucose-6-phosphatase deficiency type b (Orphanet:79259)
Glycogen storage disease due to 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 hepatic glycogen synthase deficiency (Orphanet:2089)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 (OMIM:267700)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HOMOZYGOUS 11p15-p14 DELETION SYNDROME (OMIM:606528)
HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA (OMIM:239199)
Hall-Riggs syndrome (Orphanet:2107)
Harrod syndrome (Orphanet:2115)
Hawkinsinuria (Orphanet:2118)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary fructose intolerance (Orphanet:469)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Hereditary orotic aciduria (Orphanet:30)
Hyper-beta-alaninemia (Orphanet:309147)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperleucine-isoleucinemia (OMIM:238340)
Hyperlysinemia, type I (OMIM:238700)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Hypocalcemic vitamin D-dependent rickets (Orphanet:289157)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
ICF syndrome (Orphanet:2268)
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS (OMIM:242150)
IMMUNODEFICIENCY 15 (OMIM:615592)
IMMUNODEFICIENCY 17 (OMIM:615607)
IMMUNODEFICIENCY 19 (OMIM:615617)
IMMUNODEFICIENCY 22 (OMIM:615758)
IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 (OMIM:242860)
INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:615486)
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Immunodeficiency by defective expression of HLA class 2 (Orphanet:572)
Infantile Bartter syndrome with deafness (Orphanet:89938)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile hypophosphatasia (Orphanet:247651)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet:319462)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual disability-strabismus syndrome (Orphanet:363528)
Intestinal epithelial dysplasia (Orphanet:92050)
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)
JMP syndrome (Orphanet:324999)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Junctional epidermolysis bullosa, Herlitz type (Orphanet:79404)
Juvenile polyposis syndrome (Orphanet:2929)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
KRABBE DISEASE (OMIM:245200)
Koolen-De Vries syndrome (Orphanet:96169)
Krabbe disease (Orphanet:487)
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME (OMIM:308940)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
Leigh syndrome (Orphanet:506)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:5)
Lymphoid interstitial pneumonia (Orphanet:79128)
Lysinuric protein intolerance (Orphanet:470)
Lysosomal acid lipase deficiency (Orphanet:275761)
MEGDEL syndrome (Orphanet:352328)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 (OMIM:616281)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614894)
MPDU1-CDG (Orphanet:79323)
MPI-CDG (Orphanet:79319)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Marden-Walker syndrome (Orphanet:2461)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall-Smith syndrome (Orphanet:561)
Maternally-inherited Leigh syndrome (Orphanet:255210)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (Orphanet:308425)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Mevalonic aciduria (Orphanet:29)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microgastria - limb reduction defect (Orphanet:2538)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
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 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)
Mucolipidosis type 2 (Orphanet:576)
Mulibrey nanism (Orphanet:2576)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
NEUROBLASTOMA, SUSCEPTIBILITY TONEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED (OMIM:256700)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE (OMIM:616022)
NOONAN SYNDROME 8 (OMIM:615355)
Nakajo-Nishimura syndrome (Orphanet:2615)
Navajo neurohepatopathy (Orphanet:255229)
Neonatal acute respiratory distress with surfactant metabolism deficiency (Orphanet:217563)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Nephrogenic diabetes insipidus (Orphanet:223)
Nephronophthisis 2 (OMIM:602088)
Nephronophthisis 3 (OMIM:604387)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Netherton syndrome (Orphanet:634)
Neuroblastoma (Orphanet:635)
Niemann-Pick disease type A (Orphanet:77292)
Noonan syndrome (Orphanet:648)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Oculocerebrorenal syndrome (Orphanet:534)
Omenn syndrome (Orphanet:39041)
Ornithine transcarbamylase deficiency (Orphanet:664)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PELGER-HUET ANOMALY (OMIM:169400)
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)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
PMM2-CDG (Orphanet:79318)
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1 (OMIM:179010)
Pancreatic agenesis, congenital (OMIM:260370)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Pancreatic insufficiency - anemia - hyperostosis (Orphanet:199337)
Pearson syndrome (Orphanet:699)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to AIMP1 mutation (Orphanet:280293)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polyglucosan body myopathy type 1 (ORPHA:397937)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Porphyria due to ALA dehydratase deficiency (Orphanet:100924)
Primary Fanconi syndrome (Orphanet:3337)
Primary hyperoxaluria type 1 (Orphanet:93598)
Progressive familial intrahepatic cholestasis (Orphanet:172)
Progressive familial intrahepatic cholestasis type 1 (Orphanet:79306)
Progressive familial intrahepatic cholestasis type 2 (Orphanet:79304)
Propionic acidemia (Orphanet:35)
Proteasome disability syndrome (Orphanet:324977)
Proximal renal tubular acidosis (Orphanet:47159)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyridoxal phosphate-responsive seizures (Orphanet:79096)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
RFT1-CDG (Orphanet:244310)
Recurrent infections-myelofibrosis-nephromegaly syndrome (Orphanet:369852)
Renal pseudohypoaldosteronism type 1 (Orphanet:171871)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Respiratory bronchiolitis - interstitial lung disease (Orphanet:79127)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic chondrodysplasia punctata type 3 (Orphanet:309803)
Rigid spine syndrome (Orphanet:97244)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
STT3A-CDG (Orphanet:370921)
STT3B-CDG (Orphanet:370924)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Schinzel-Giedion syndrome (Orphanet:798)
Severe combined immunodeficiency due to DCLRE1C deficiency (Orphanet:275)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe combined immunodeficiency due to complete RAG1/2 deficiency (Orphanet:331206)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short-rib thoracic dysplasia 8 with or without polydactyly (OMIM:615503)
Shwachman-Diamond syndrome (Orphanet:811)
Skin fragility-woolly hair-palmoplantar keratoderma syndrome (Orphanet:293165)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spinal muscular atrophy with respiratory distress (Orphanet:98920)
Sporadic Leigh syndrome (Orphanet:255199)
Syndromic diarrhea (Orphanet:84064)
T-B+ severe combined immunodeficiency due to JAK3 deficiency (Orphanet:35078)
T-B+ severe combined immunodeficiency due to gamma chain deficiency (Orphanet:276)
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
TARP syndrome (Orphanet:2886)
TMEM165-CDG (Orphanet:314667)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
TRYPSINOGEN DEFICIENCY (OMIM:614044)
Thymic aplasia (Orphanet:83471)
Transcobalamin deficiency (Orphanet:859)
Tyrosinemia type 1 (Orphanet:882)
Tyrosinemia type 2 (Orphanet:28378)
VACTERL/VATER association (Orphanet:887)
VALINEMIA (OMIM:277100)
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)
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-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)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiedemann-Steiner syndrome (Orphanet:319182)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
Wolman disease (Orphanet:75233)
Wrinkly skin syndrome (Orphanet:2834)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
XIA-GIBBS SYNDROME (OMIM:615829)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
[DEL] SENGERS SYNDROME (OMIM:212350)