Growth delay

Symptom Information:

Symptom ID: HPO:0001510
Synonyms:
Delayed growth [HPO:0001510]
Growth deficiency [HPO:0001510]
Growth failure [HPO:0001510]
Growth retardation [HPO:0001510]
Poor growth [HPO:0001510]
Retarded growth [HPO:0001510]
VERY POOR GROWTH [HPO:0001510]
Failure to thrive [Orphanet:54070]
Failure to thrive [Orphanet:53450]
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]
Delayed growth [OMIM:Delayed growth]
Growth deficiency [OMIM:Growth deficiency]
Growth delay [OMIM:Growth delay]
Growth failure [OMIM:Growth failure]
Growth retardation [OMIM:Growth retardation]
Poor growth [OMIM:Poor growth]
Retarded growth [OMIM:Retarded growth]
Very poor growth [OMIM:Very poor growth]
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 [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)]
Growth retardation (1 patient) [OMIM:Growth retardation (1 patient)]
Growth retardation (childhood-onset) [OMIM:Growth retardation (childhood-onset)]
Growth retardation (children) [OMIM:Growth retardation (children)]
Growth retardation (in some patients) [OMIM:Growth retardation (in some patients)]
Growth retardation. [OMIM:Growth retardation.]
Poor growth (in some patients) [OMIM:Poor growth (in some patients)]
General health alteration [Orphanet:54070]
Growth retardation [MedDRA:10053759]
Quality:
Cross references:
HPO:0001508 "Failure to thrive" [Orphanet:54070]
HPO:0001508 "Failure to thrive" [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: "Delayed growth" [OMIM:Delayed growth]
OMIM: "Growth deficiency" [OMIM:Growth deficiency]
OMIM: "Growth delay" [OMIM:Growth delay]
OMIM: "Growth failure" [OMIM:Growth failure]
OMIM: "Growth retardation" [OMIM:Growth retardation]
OMIM: "Poor growth" [OMIM:Poor growth]
OMIM: "Retarded growth" [OMIM:Retarded growth]
OMIM: "Very poor growth" [OMIM:Very poor growth]
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)]
OMIM: "Growth retardation (1 patient)" [OMIM:Growth retardation (1 patient)]
OMIM: "Growth retardation (childhood-onset)" [OMIM:Growth retardation (childhood-onset)]
OMIM: "Growth retardation (children)" [OMIM:Growth retardation (children)]
OMIM: "Growth retardation (in some patients)" [OMIM:Growth retardation (in some patients)]
OMIM: "Growth retardation." [OMIM:Growth retardation.]
OMIM: "Poor growth (in some patients)" [OMIM:Poor growth (in some patients)]
UMLS:C0015544 "Failure to Thrive" [Orphanet:54070]
UMLS:C0456070 "Growth delay" [Orphanet:53450]
UMLS:C0015544 "Failure to Thrive" [Orphanet:53450]
Is a (Direct Parents):
Orphanet Health status anomalies
MedDRA Musculoskeletal and connective tissue signs and symptoms NEC
MedDRA Infancy, childhood and adolescence psychiatric disorders NEC
Orphanet Failure to thrive
Orphanet Build/stature/longevity anomalies
HPO         Growth abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Growth delay(HPO:0001510)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders NEC(MedDRA:10028393)
       Musculoskeletal and connective tissue signs and symptoms NEC(MedDRA:10027688)
          Growth delay(HPO:0001510)
Database Frequency: 295 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q24 microdeletion syndrome (Orphanet:94065)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 microduplication syndrome (Orphanet:1727)
2p21 microdeletion syndrome (Orphanet:163693)
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
3-phosphoglycerate dehydrogenase deficiency (Orphanet:79351)
3MC SYNDROME 1 (OMIM:257920)
ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,AND TRACHEAL STENOSIS (OMIM:601427)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Acro-cardio-facial syndrome (Orphanet:2008)
Acrocallosal syndrome (Orphanet:36)
Adenylosuccinate lyase deficiency (Orphanet:46)
Alpha-mannosidosis (Orphanet:61)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autosomal dominant distal renal tubular acidosis (Orphanet:93608)
Autosomal dominant hypophosphatemic rickets (Orphanet:89937)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive distal renal tubular acidosis without deafness (Orphanet:93609)
Autosomal recessive medullary cystic kidney disease (Orphanet:655)
Autosomal recessive proximal renal tubular acidosis (Orphanet:93607)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY (OMIM:112370)
BRESEK syndrome (Orphanet:85284)
Bardet-Biedl syndrome 12 (OMIM:615989)
Barth syndrome (Orphanet:111)
Bifunctional enzyme deficiency (Orphanet:300)
Bloom syndrome (Orphanet:125)
Braddock syndrome (Orphanet:52047)
CANDLE syndrome (Orphanet:325004)
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CITRULLINE TRANSPORT DEFECT (OMIM:215720)
COG4-CDG (Orphanet:263501)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
CYCLIC VOMITING SYNDROME (OMIM:500007)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnitine uptake deficiency (Orphanet:158)
Carpenter-Waziri syndrome (Orphanet:93973)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Chylomicron retention disease (Orphanet:71)
Citrullinemia type I (Orphanet:247525)
Citrullinemia type II (Orphanet:247585)
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 8 (Orphanet:319504)
Combined oxidative phosphorylation defect type 9 (Orphanet:319509)
Congenital chloride diarrhea (Orphanet:53689)
Congenital ichthyosis - intellectual deficit - spastic quadriplegia (Orphanet:352333)
Congenital intrinsic factor deficiency (Orphanet:332)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital nephrotic syndrome, Finnish type (Orphanet:839)
Contractures - ectodermal dysplasia - cleft lip/palate (Orphanet:1484)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Cushing disease (Orphanet:96253)
Cushing syndrome (Orphanet:553)
Cystinosis (Orphanet:213)
D-glyceric aciduria (Orphanet:941)
DK1-CDG (Orphanet:91131)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 (OMIM:613990)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 (OMIM:613987)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Dent disease type 1 (Orphanet:93622)
Desquamative interstitial pneumonia (Orphanet:98852)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dihydropyrimidinuria (Orphanet:38874)
Distal monosomy 1q (Orphanet:36367)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
ENTEROPATHY, PROTEIN-LOSING (OMIM:226300)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
Epidermolysis bullosa simplex, Dowling-Meara type (Orphanet:79396)
FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
FANCONI ANEMIA, COMPLEMENTATION GROUP M (OMIM:614087)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
Fabry disease (Orphanet:324)
Familial dysautonomia (Orphanet:1764)
Familial hypoaldosteronism (Orphanet:427)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fine-Lubinsky syndrome (Orphanet:1272)
Formiminoglutamic aciduria (Orphanet:51208)
Frank-Ter Haar syndrome (Orphanet:137834)
Fucosidosis (Orphanet:349)
GAPO syndrome (Orphanet:2067)
GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Glycogen storage disease due to GLUT2 deficiency (Orphanet:2088)
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 debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to liver phosphorylase kinase deficiency (Orphanet:264580)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
HYPERLYSINURIA WITH HYPERAMMONEMIA (OMIM:238750)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Hawkinsinuria (Orphanet:2118)
Hereditary fructose intolerance (Orphanet:469)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Hereditary orotic aciduria (Orphanet:30)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
Holmes-Gang syndrome (Orphanet:93970)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency (Orphanet:71212)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency (Orphanet:2435)
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)
IMMUNODEFICIENCY 12 (OMIM:615468)
IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1 (OMIM:243110)
IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
INFLAMMATORY BOWEL DISEASE 1 (OMIM:266600)
INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF (OMIM:243320)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile regressive hypertriglyceridemia and hepatosteatosis (Orphanet:300293)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Schimke type (Orphanet:85285)
Intellectual deficit, X-linked, Wilson type (Orphanet:85290)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
JMP syndrome (Orphanet:324999)
Joubert syndrome 10 (OMIM:300804)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome with hepatic defect (Orphanet:1454)
Juberg-Marsidi syndrome (Orphanet:93972)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS (OMIM:244600)
LEOPARD SYNDROME 1 (OMIM:151100)
LEOPARD SYNDROME 3 (OMIM:613707)
LESCH-NYHAN SYNDROME (OMIM:300322)
LYSINE MALABSORPTION SYNDROME (OMIM:247950)
Lathosterolosis (Orphanet:46059)
Leber congenital amaurosis 1 (OMIM:204000)
Leigh syndrome with nephrotic syndrome (Orphanet:255249)
Leprechaunism (Orphanet:508)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Linear nevus sebaceus syndrome (Orphanet:2612)
MEDNIK syndrome (Orphanet:171851)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA (OMIM:156190)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA (OMIM:255140)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED (OMIM:300580)
Marinesco-Sjögren syndrome (Orphanet:559)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microlissencephaly (Orphanet:1083)
Microvillous inclusion disease (Orphanet:2290)
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 - lactic acidosis - deafness (Orphanet:2597)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Monosomy 5p (Orphanet:281)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nathalie syndrome (Orphanet:2663)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Nephronophthisis 1 (OMIM:256100)
Nephronophthisis 4 (OMIM:606966)
Nephronophthisis 9 (OMIM:613824)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Niemann-Pick disease type A (Orphanet:77292)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS (OMIM:257790)
OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI (OMIM:259270)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Ornithine transcarbamylase deficiency (Orphanet:664)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
PGM1-CDG (Orphanet:319646)
PITUITARY DWARFISM WITH LARGE SELLA TURCICA (OMIM:262710)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
Pancreatic agenesis, congenital (OMIM:260370)
Pancreatic hypoplasia - diabetes - congenital heart disease (Orphanet:2255)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 3 (OMIM:614129)
Polyglucosan body myopathy type 1 (ORPHA:397937)
Primary Fanconi syndrome (Orphanet:3337)
Progressive familial intrahepatic cholestasis type 1 (Orphanet:79306)
Progressive familial intrahepatic cholestasis type 2 (Orphanet:79304)
Progressive osseous heteroplasia (Orphanet:2762)
Proteasome disability syndrome (Orphanet:324977)
Proximal renal tubular acidosis (Orphanet:47159)
Pseudoaminopterin syndrome (Orphanet:221120)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
RIENHOFF SYNDROME (OMIM:615582)
ROWLEY-ROSENBERG SYNDROME (OMIM:268500)
Rabson-Mendenhall syndrome (Orphanet:769)
Recessive hereditary methemoglobinemia type 1 (Orphanet:139373)
Recessive hereditary methemoglobinemia type 2 (Orphanet:139380)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
SECKEL SYNDROME 2 (OMIM:606744)
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY (OMIM:616084)
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Salla disease (Orphanet:309334)
Self-healing collodion baby (Orphanet:281122)
Senior-Boichis syndrome (Orphanet:84081)
Severe congenital hypochromic anemia with ringed sideroblasts (Orphanet:300298)
Severe dermatitis-multiple allergies-metabolic wasting syndrome (Orphanet:369992)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Short stature due to growth hormone qualitative anomaly (Orphanet:629)
Singleton-Merten dysplasia (Orphanet:85191)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Sporadic Leigh syndrome (Orphanet:255199)
Subaortic stenosis - short stature (Orphanet:3191)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
T-SUBSTANCE ANOMALY (OMIM:276200)
THREE M SYNDROME 3 (OMIM:614205)
THREONINEMIA (OMIM:273770)
THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
TMEM165-CDG (Orphanet:314667)
TRICHORRHEXIS NODOSA SYNDROME (OMIM:275550)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Transaldolase deficiency (Orphanet:101028)
Tyrosinemia type 1 (Orphanet:882)
Tyrosinemia type 2 (Orphanet:28378)
Ulnar-mammary syndrome (Orphanet:3138)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
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)
VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION (OMIM:277465)
Vici syndrome (Orphanet:1493)
WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS (OMIM:278100)
Wolfram syndrome 1 (OMIM:222300)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked hypophosphatemia (Orphanet:89936)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Xeroderma pigmentosum complementation group G (Orphanet:276267)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
[DEL] SENGERS SYNDROME (OMIM:212350)