Growth delay
Symptom Information:
Symptom ID: | HPO:0001510 | ||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): | |||||||||||||||||||||||||||||||||||||||||||||||
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) |
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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) |