Human Phenotype Ontology 
Grandparent Node:
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Abnormal mandible morphology (HP:0000277)help
Grandparent Node:
expand
Aplasia/Hypoplasia involving bones of the skull (HP:0009116)help
Parent Node:
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Aplasia/Hypoplasia of the mandible (HP:0009118)help
..Starting node
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Micrognathia (HP:0000347)help
Term ID: 347
Name: Micrognathia
Synonym: Decreased projection of lower jaw; Decreased projection of mandible; Decreased size of lower jaw; Decreased size of mandible; Deficiency of lower jaw; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; Micrognathia of lower jaw; Micromandible; Retrusion of lower jaw; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible
Definition: Developmental hypoplasia of the mandible.
Comments:
Reference: HP:0000347
Genes and Diseases:
 
       Child Nodes:
........expandMicroretrognathia (HP:0000308) help
........expandShort mandibular rami (HP:0003778) help
................... HP:0005790 Short mandibular condyles

 Sister Nodes: 
..expandMandibular aplasia (HP:0009939) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000347HP:0000347Micrognathia0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj typeHP:0040283 - Occasional53
HP:0000347HP:0000347Micrognathia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000347HP:0000347Micrognathia0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0000347HP:0000347Micrognathia0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0000347HP:0000347Micrognathia0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000347HP:0000347Micrognathia0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000347HP:0000347Micrognathia0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0000347HP:0000347Micrognathia0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000347HP:0000347Micrognathia0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040282 - Frequent165
HP:0000347HP:0000347Micrognathia0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000347HP:0000347Micrognathia0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040282 - Frequent72
HP:0000347HP:0000347Micrognathia0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000347HP:0000347Micrognathia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0000347HP:0000347Micrognathia0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0000347HP:0000347Micrognathia0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000347HP:0000347Micrognathia0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000347HP:0000347Micrognathia0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000347HP:0000347Micrognathia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0000347HP:0000347Micrognathia0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0000347HP:0000347Micrognathia0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0000347HP:0000347Micrognathia0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0000347HP:0000347Micrognathia0ALDH1A2 CL E G H885415472OMIM:620025
HP:0000347HP:0000347Micrognathia0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0000347HP:0000347Micrognathia0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000347HP:0000347Micrognathia0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0000347HP:0000347Micrognathia0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0000347HP:0000347Micrognathia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000347HP:0000347Micrognathia0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000347HP:0000347Micrognathia0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent132
HP:0000347HP:0000347Micrognathia0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000347HP:0000347Micrognathia0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0000347HP:0000347Micrognathia0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000347HP:0000347Micrognathia0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000347HP:0000347Micrognathia0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040281 - Very frequent150
HP:0000347HP:0000347Micrognathia0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000347HP:0000347Micrognathia0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0000347HP:0000347Micrognathia0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000347HP:0000347Micrognathia0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000347HP:0000347Micrognathia0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040283 - Occasional3179
HP:0000347HP:0000347Micrognathia0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000347HP:0000347Micrognathia0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0000347HP:0000347Micrognathia0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000347HP:0000347Micrognathia0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0000347HP:0000347Micrognathia0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040283 - Occasional166
HP:0000347HP:0000347Micrognathia0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0000347HP:0000347Micrognathia0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000347HP:0000347Micrognathia0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0000347HP:0000347Micrognathia0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000347HP:0000347Micrognathia0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000347HP:0000347Micrognathia0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000347HP:0000347Micrognathia0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0000347HP:0000347Micrognathia0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0000347HP:0000347Micrognathia0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000347HP:0000347Micrognathia0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000347HP:0000347Micrognathia0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0000347HP:0000347Micrognathia0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0000347HP:0000347Micrognathia0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0000347HP:0000347Micrognathia0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000347HP:0000347Micrognathia0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000347HP:0000347Micrognathia0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000347HP:0000347Micrognathia0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0000347HP:0000347Micrognathia0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0000347HP:0000347Micrognathia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000347HP:0000347Micrognathia0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0000347HP:0000347Micrognathia0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0000347HP:0000347Micrognathia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0000347HP:0000347Micrognathia0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000347HP:0000347Micrognathia0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000347HP:0000347Micrognathia0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000347HP:0000347Micrognathia0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000347HP:0000347Micrognathia0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000347HP:0000347Micrognathia0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0000347HP:0000347Micrognathia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0000347HP:0000347Micrognathia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040282 - Frequent5
HP:0000347HP:0000347Micrognathia0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0000347HP:0000347Micrognathia0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000347HP:0000347Micrognathia0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0000347HP:0000347Micrognathia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000347HP:0000347Micrognathia0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0000347HP:0000347Micrognathia0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type.
HP:0000347HP:0000347Micrognathia0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000347HP:0000347Micrognathia0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000347HP:0000347Micrognathia0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000347HP:0000347Micrognathia0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000347HP:0000347Micrognathia0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatalHP:0040283 - Occasional20
HP:0000347HP:0000347Micrognathia0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000347HP:0000347Micrognathia0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000347HP:0000347Micrognathia0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0000347HP:0000347Micrognathia0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000347HP:0000347Micrognathia0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent5
HP:0000347HP:0000347Micrognathia0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent76
HP:0000347HP:0000347Micrognathia0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000347HP:0000347Micrognathia0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040282 - Frequent13
HP:0000347HP:0000347Micrognathia0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000347HP:0000347Micrognathia0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040283 - Occasional15
HP:0000347HP:0000347Micrognathia0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040283 - Occasional7
HP:0000347HP:0000347Micrognathia0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000347HP:0000347Micrognathia0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000347HP:0000347Micrognathia0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000347HP:0000347Micrognathia0CACNA1C CL E G H7751390OMIM:620029572
HP:0000347HP:0000347Micrognathia0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000347HP:0000347Micrognathia0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0000347HP:0000347Micrognathia0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000347HP:0000347Micrognathia0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000347HP:0000347Micrognathia0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000347HP:0000347Micrognathia0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000347HP:0000347Micrognathia0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000347HP:0000347Micrognathia0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000347HP:0000347Micrognathia0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0000347HP:0000347Micrognathia0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000347HP:0000347Micrognathia0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000347HP:0000347Micrognathia0CDC42BPB CL E G H95781738OMIM:619841
HP:0000347HP:0000347Micrognathia0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0000347HP:0000347Micrognathia0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0000347HP:0000347Micrognathia0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0000347HP:0000347Micrognathia0CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040281 - Very frequent4
HP:0000347HP:0000347Micrognathia0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia.3
HP:0000347HP:0000347Micrognathia0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent114
HP:0000347HP:0000347Micrognathia0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0000347HP:0000347Micrognathia0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0000347HP:0000347Micrognathia0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive.20
HP:0000347HP:0000347Micrognathia0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0000347HP:0000347Micrognathia0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000347HP:0000347Micrognathia0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0000347HP:0000347Micrognathia0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0000347HP:0000347Micrognathia0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0000347HP:0000347Micrognathia0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0000347HP:0000347Micrognathia0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000347HP:0000347Micrognathia0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000347HP:0000347Micrognathia0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent17
HP:0000347HP:0000347Micrognathia0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000347HP:0000347Micrognathia0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0000347HP:0000347Micrognathia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0000347HP:0000347Micrognathia0CHD5 CL E G H2603816816OMIM:619873
HP:0000347HP:0000347Micrognathia0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000347HP:0000347Micrognathia0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000347HP:0000347Micrognathia0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0000347HP:0000347Micrognathia0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000347HP:0000347Micrognathia0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0000347HP:0000347Micrognathia0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000347HP:0000347Micrognathia0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000347HP:0000347Micrognathia0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0000347HP:0000347Micrognathia0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000347HP:0000347Micrognathia0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0000347HP:0000347Micrognathia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0000347HP:0000347Micrognathia0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0000347HP:0000347Micrognathia0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000347HP:0000347Micrognathia0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0000347HP:0000347Micrognathia0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040283 - Occasional6
HP:0000347HP:0000347Micrognathia0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000347HP:0000347Micrognathia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0000347HP:0000347Micrognathia0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0000347HP:0000347Micrognathia0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0000347HP:0000347Micrognathia0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7HP:0040283 - Occasional9
HP:0000347HP:0000347Micrognathia0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000347HP:0000347Micrognathia0COASY CL E G H8034729932OMIM:618266Pontocerebellar hypoplasia, type 12.16
HP:0000347HP:0000347Micrognathia0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0000347HP:0000347Micrognathia0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000347HP:0000347Micrognathia0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000347HP:0000347Micrognathia0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0000347HP:0000347Micrognathia0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0000347HP:0000347Micrognathia0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040281 - Very frequent215
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent215
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II.215
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0000347HP:0000347Micrognathia0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0000347HP:0000347Micrognathia0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000347HP:0000347Micrognathia0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0000347HP:0000347Micrognathia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0000347HP:0000347Micrognathia0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0000347HP:0000347Micrognathia0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0000347HP:0000347Micrognathia0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000347HP:0000347Micrognathia0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0000347HP:0000347Micrognathia0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent284
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040282 - Frequent284
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0000347HP:0000347Micrognathia0COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040282 - Frequent749
HP:0000347HP:0000347Micrognathia0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0000347HP:0000347Micrognathia0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000347HP:0000347Micrognathia0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0000347HP:0000347Micrognathia0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0000347HP:0000347Micrognathia0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0000347HP:0000347Micrognathia0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000347HP:0000347Micrognathia0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000347HP:0000347Micrognathia0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent137
HP:0000347HP:0000347Micrognathia0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000347HP:0000347Micrognathia0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent6
HP:0000347HP:0000347Micrognathia0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000347HP:0000347Micrognathia0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0000347HP:0000347Micrognathia0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000347HP:0000347Micrognathia0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0000347HP:0000347Micrognathia0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000347HP:0000347Micrognathia0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000347HP:0000347Micrognathia0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040281 - Very frequent291
HP:0000347HP:0000347Micrognathia0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000347HP:0000347Micrognathia0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040283 - Occasional24
HP:0000347HP:0000347Micrognathia0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0000347HP:0000347Micrognathia0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000347HP:0000347Micrognathia0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000347HP:0000347Micrognathia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000347HP:0000347Micrognathia0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0000347HP:0000347Micrognathia0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000347HP:0000347Micrognathia0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0000347HP:0000347Micrognathia0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0000347HP:0000347Micrognathia0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0000347HP:0000347Micrognathia0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000347HP:0000347Micrognathia0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000347HP:0000347Micrognathia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0000347HP:0000347Micrognathia0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000347HP:0000347Micrognathia0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0000347HP:0000347Micrognathia0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent27
HP:0000347HP:0000347Micrognathia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000347HP:0000347Micrognathia0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0000347HP:0000347Micrognathia0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000347HP:0000347Micrognathia0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0000347HP:0000347Micrognathia0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0000347HP:0000347Micrognathia0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0000347HP:0000347Micrognathia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000347HP:0000347Micrognathia0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0000347HP:0000347Micrognathia0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0000347HP:0000347Micrognathia0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0000347HP:0000347Micrognathia0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0000347HP:0000347Micrognathia0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0DNA2 CL E G H17632939OMIM:615807Seckel syndrome 8.41
HP:0000347HP:0000347Micrognathia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000347HP:0000347Micrognathia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040281 - Very frequent79
HP:0000347HP:0000347Micrognathia0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0000347HP:0000347Micrognathia0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0000347HP:0000347Micrognathia0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent91
HP:0000347HP:0000347Micrognathia0DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0000347HP:0000347Micrognathia0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0000347HP:0000347Micrognathia0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0000347HP:0000347Micrognathia0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0000347HP:0000347Micrognathia0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0000347HP:0000347Micrognathia0DPH5 CL E G H5161124270OMIM:620070
HP:0000347HP:0000347Micrognathia0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000347HP:0000347Micrognathia0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0000347HP:0000347Micrognathia0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0000347HP:0000347Micrognathia0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0000347HP:0000347Micrognathia0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0000347HP:0000347Micrognathia0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0000347HP:0000347Micrognathia0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0000347HP:0000347Micrognathia0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000347HP:0000347Micrognathia0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000347HP:0000347Micrognathia0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000347HP:0000347Micrognathia0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000347HP:0000347Micrognathia0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000347HP:0000347Micrognathia0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0000347HP:0000347Micrognathia0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000347HP:0000347Micrognathia0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040284 - Very rare4
HP:0000347HP:0000347Micrognathia0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000347HP:0000347Micrognathia0EBP CL E G H106823133OMIM:300960Mend syndrome51
HP:0000347HP:0000347Micrognathia0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D.37
HP:0000347HP:0000347Micrognathia0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000347HP:0000347Micrognathia0EDN1 CL E G H19063176OMIM:615706Auriculocondylar syndrome 3.6
HP:0000347HP:0000347Micrognathia0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000347HP:0000347Micrognathia0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000347HP:0000347Micrognathia0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0000347HP:0000347Micrognathia0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0000347HP:0000347Micrognathia0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0000347HP:0000347Micrognathia0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0000347HP:0000347Micrognathia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000347HP:0000347Micrognathia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000347HP:0000347Micrognathia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000347HP:0000347Micrognathia0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040283 - Occasional5
HP:0000347HP:0000347Micrognathia0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0000347HP:0000347Micrognathia0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000347HP:0000347Micrognathia0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000347HP:0000347Micrognathia0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000347HP:0000347Micrognathia0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040281 - Very frequent250
HP:0000347HP:0000347Micrognathia0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000347HP:0000347Micrognathia0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 2.12
HP:0000347HP:0000347Micrognathia0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0000347HP:0000347Micrognathia0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0000347HP:0000347Micrognathia0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0000347HP:0000347Micrognathia0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0000347HP:0000347Micrognathia0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000347HP:0000347Micrognathia0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000347HP:0000347Micrognathia0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000347HP:0000347Micrognathia0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0000347HP:0000347Micrognathia0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0000347HP:0000347Micrognathia0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000347HP:0000347Micrognathia0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0000347HP:0000347Micrognathia0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0000347HP:0000347Micrognathia0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000347HP:0000347Micrognathia0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0000347HP:0000347Micrognathia0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0000347HP:0000347Micrognathia0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent102
HP:0000347HP:0000347Micrognathia0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000347HP:0000347Micrognathia0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional135
HP:0000347HP:0000347Micrognathia0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000347HP:0000347Micrognathia0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040281 - Very frequent35
HP:0000347HP:0000347Micrognathia0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000347HP:0000347Micrognathia0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000347HP:0000347Micrognathia0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000347HP:0000347Micrognathia0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0000347HP:0000347Micrognathia0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000347HP:0000347Micrognathia0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000347HP:0000347Micrognathia0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000347HP:0000347Micrognathia0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000347HP:0000347Micrognathia0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000347HP:0000347Micrognathia0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000347HP:0000347Micrognathia0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000347HP:0000347Micrognathia0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0000347HP:0000347Micrognathia0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000347HP:0000347Micrognathia0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent114
HP:0000347HP:0000347Micrognathia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000347HP:0000347Micrognathia0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0000347HP:0000347Micrognathia0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040282 - Frequent1361
HP:0000347HP:0000347Micrognathia0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0000347HP:0000347Micrognathia0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0000347HP:0000347Micrognathia0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000347HP:0000347Micrognathia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000347HP:0000347Micrognathia0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000347HP:0000347Micrognathia0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000347HP:0000347Micrognathia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0000347HP:0000347Micrognathia0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040282 - Frequent18
HP:0000347HP:0000347Micrognathia0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0000347HP:0000347Micrognathia0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040282 - Frequent172
HP:0000347HP:0000347Micrognathia0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0000347HP:0000347Micrognathia0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0000347HP:0000347Micrognathia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0000347HP:0000347Micrognathia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0000347HP:0000347Micrognathia0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000347HP:0000347Micrognathia0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000347HP:0000347Micrognathia0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000347HP:0000347Micrognathia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000347HP:0000347Micrognathia0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000347HP:0000347Micrognathia0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000347HP:0000347Micrognathia0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent493
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040281 - Very frequent493
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0000347HP:0000347Micrognathia0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040283 - Occasional233
HP:0000347HP:0000347Micrognathia0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0000347HP:0000347Micrognathia0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0000347HP:0000347Micrognathia0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0000347HP:0000347Micrognathia0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0000347HP:0000347Micrognathia0FOCAD CL E G H5491423377OMIM:6199913
HP:0000347HP:0000347Micrognathia0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0000347HP:0000347Micrognathia0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0000347HP:0000347Micrognathia0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000347HP:0000347Micrognathia0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000347HP:0000347Micrognathia0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0000347HP:0000347Micrognathia0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000347HP:0000347Micrognathia0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000347HP:0000347Micrognathia0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000347HP:0000347Micrognathia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0000347HP:0000347Micrognathia0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040281 - Very frequent98
HP:0000347HP:0000347Micrognathia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0000347HP:0000347Micrognathia0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000347HP:0000347Micrognathia0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000347HP:0000347Micrognathia0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000347HP:0000347Micrognathia0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000347HP:0000347Micrognathia0GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 1.45
HP:0000347HP:0000347Micrognathia0GLE1 CL E G H27334315ORPHA:1486Lethal congenital contracture syndrome type 1HP:0040281 - Very frequent45
HP:0000347HP:0000347Micrognathia0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000347HP:0000347Micrognathia0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0000347HP:0000347Micrognathia0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000347HP:0000347Micrognathia0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0000347HP:0000347Micrognathia0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000347HP:0000347Micrognathia0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0000347HP:0000347Micrognathia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000347HP:0000347Micrognathia0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0000347HP:0000347Micrognathia0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000347HP:0000347Micrognathia0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000347HP:0000347Micrognathia0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040282 - Frequent99
HP:0000347HP:0000347Micrognathia0GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0000347HP:0000347Micrognathia0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0GRIP1 CL E G H2342618708OMIM:617667Fraser syndrome 3.80
HP:0000347HP:0000347Micrognathia0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0000347HP:0000347Micrognathia0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000347HP:0000347Micrognathia0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000347HP:0000347Micrognathia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0000347HP:0000347Micrognathia0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000347HP:0000347Micrognathia0H4C9 CL E G H82944793OMIM:619951
HP:0000347HP:0000347Micrognathia0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000347HP:0000347Micrognathia0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000347HP:0000347Micrognathia0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent11
HP:0000347HP:0000347Micrognathia0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000347HP:0000347Micrognathia0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000347HP:0000347Micrognathia0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0000347HP:0000347Micrognathia0HEATR3 CL E G H5502726087OMIM:620072
HP:0000347HP:0000347Micrognathia0HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040281 - Very frequent6
HP:0000347HP:0000347Micrognathia0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000347HP:0000347Micrognathia0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000347HP:0000347Micrognathia0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000347HP:0000347Micrognathia0HNRNPR CL E G H102365047OMIM:620073
HP:0000347HP:0000347Micrognathia0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040282 - Frequent39
HP:0000347HP:0000347Micrognathia0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3HP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000347HP:0000347Micrognathia0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000347HP:0000347Micrognathia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000347HP:0000347Micrognathia0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040281 - Very frequent31
HP:0000347HP:0000347Micrognathia0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0000347HP:0000347Micrognathia0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0000347HP:0000347Micrognathia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0000347HP:0000347Micrognathia0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0000347HP:0000347Micrognathia0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000347HP:0000347Micrognathia0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3HP:0040283 - Occasional11
HP:0000347HP:0000347Micrognathia0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000347HP:0000347Micrognathia0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0000347HP:0000347Micrognathia0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0000347HP:0000347Micrognathia0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0000347HP:0000347Micrognathia0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000347HP:0000347Micrognathia0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0000347HP:0000347Micrognathia0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0000347HP:0000347Micrognathia0IGFALS CL E G H34835468ORPHA:140941Short stature due to primary acid-labile subunit deficiencyHP:0040282 - Frequent53
HP:0000347HP:0000347Micrognathia0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000347HP:0000347Micrognathia0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000347HP:0000347Micrognathia0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000347HP:0000347Micrognathia0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040283 - Occasional119
HP:0000347HP:0000347Micrognathia0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000347HP:0000347Micrognathia0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040281 - Very frequent99
HP:0000347HP:0000347Micrognathia0IRX5 CL E G H1026514361OMIM:611174Hamamy syndromeHP:0040283 - Occasional4
HP:0000347HP:0000347Micrognathia0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0000347HP:0000347Micrognathia0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000347HP:0000347Micrognathia0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome34
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040281 - Very frequent141
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0000347HP:0000347Micrognathia0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts type10
HP:0000347HP:0000347Micrognathia0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000347HP:0000347Micrognathia0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000347HP:0000347Micrognathia0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000347HP:0000347Micrognathia0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent193
HP:0000347HP:0000347Micrognathia0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent128
HP:0000347HP:0000347Micrognathia0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0000347HP:0000347Micrognathia0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040281 - Very frequent3
HP:0000347HP:0000347Micrognathia0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000347HP:0000347Micrognathia0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000347HP:0000347Micrognathia0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000347HP:0000347Micrognathia0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000347HP:0000347Micrognathia0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000347HP:0000347Micrognathia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000347HP:0000347Micrognathia0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000347HP:0000347Micrognathia0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000347HP:0000347Micrognathia0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000347HP:0000347Micrognathia0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000347HP:0000347Micrognathia0KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0000347HP:0000347Micrognathia0KIF14 CL E G H992819181OMIM:616258Meckel syndrome 12HP:0040283 - Occasional9
HP:0000347HP:0000347Micrognathia0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000347HP:0000347Micrognathia0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040281 - Very frequent167
HP:0000347HP:0000347Micrognathia0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2.167
HP:0000347HP:0000347Micrognathia0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000347HP:0000347Micrognathia0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000347HP:0000347Micrognathia0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9HP:0040283 - Occasional13
HP:0000347HP:0000347Micrognathia0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0000347HP:0000347Micrognathia0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000347HP:0000347Micrognathia0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000347HP:0000347Micrognathia0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0000347HP:0000347Micrognathia0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000347HP:0000347Micrognathia0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0000347HP:0000347Micrognathia0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0000347HP:0000347Micrognathia0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0000347HP:0000347Micrognathia0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000347HP:0000347Micrognathia0LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040282 - Frequent70
HP:0000347HP:0000347Micrognathia0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0000347HP:0000347Micrognathia0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0000347HP:0000347Micrognathia0LETM1 CL E G H39546556OMIM:6200892
HP:0000347HP:0000347Micrognathia0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000347HP:0000347Micrognathia0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000347HP:0000347Micrognathia0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0000347HP:0000347Micrognathia0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000347HP:0000347Micrognathia0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0000347HP:0000347Micrognathia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent645
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome.645
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0000347HP:0000347Micrognathia0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0000347HP:0000347Micrognathia0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent4
HP:0000347HP:0000347Micrognathia0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0000347HP:0000347Micrognathia0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000347HP:0000347Micrognathia0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0000347HP:0000347Micrognathia0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000347HP:0000347Micrognathia0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000347HP:0000347Micrognathia0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000347HP:0000347Micrognathia0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000347HP:0000347Micrognathia0MAFB CL E G H99356408ORPHA:2774Multicentric carpo-tarsal osteolysis with or without nephropathyHP:0040281 - Very frequent63
HP:0000347HP:0000347Micrognathia0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome.63
HP:0000347HP:0000347Micrognathia0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000347HP:0000347Micrognathia0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000347HP:0000347Micrognathia0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent11
HP:0000347HP:0000347Micrognathia0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000347HP:0000347Micrognathia0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000347HP:0000347Micrognathia0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0000347HP:0000347Micrognathia0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000347HP:0000347Micrognathia0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000347HP:0000347Micrognathia0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0000347HP:0000347Micrognathia0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000347HP:0000347Micrognathia0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0000347HP:0000347Micrognathia0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000347HP:0000347Micrognathia0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent228
HP:0000347HP:0000347Micrognathia0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000347HP:0000347Micrognathia0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000347HP:0000347Micrognathia0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000347HP:0000347Micrognathia0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0000347HP:0000347Micrognathia0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0000347HP:0000347Micrognathia0MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.91
HP:0000347HP:0000347Micrognathia0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0000347HP:0000347Micrognathia0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0000347HP:0000347Micrognathia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0000347HP:0000347Micrognathia0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0000347HP:0000347Micrognathia0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000347HP:0000347Micrognathia0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000347HP:0000347Micrognathia0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent72
HP:0000347HP:0000347Micrognathia0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000347HP:0000347Micrognathia0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0000347HP:0000347Micrognathia0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0000347HP:0000347Micrognathia0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0000347HP:0000347Micrognathia0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000347HP:0000347Micrognathia0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0000347HP:0000347Micrognathia0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0000347HP:0000347Micrognathia0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0000347HP:0000347Micrognathia0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0000347HP:0000347Micrognathia0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000347HP:0000347Micrognathia0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0000347HP:0000347Micrognathia0MYMX CL E G H10192972652391OMIM:619941
HP:0000347HP:0000347Micrognathia0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000347HP:0000347Micrognathia0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0000347HP:0000347Micrognathia0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000347HP:0000347Micrognathia0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0000347HP:0000347Micrognathia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000347HP:0000347Micrognathia0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0000347HP:0000347Micrognathia0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000347HP:0000347Micrognathia0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0000347HP:0000347Micrognathia0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0000347HP:0000347Micrognathia0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000347HP:0000347Micrognathia0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000347HP:0000347Micrognathia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000347HP:0000347Micrognathia0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts type96
HP:0000347HP:0000347Micrognathia0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent3
HP:0000347HP:0000347Micrognathia0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000347HP:0000347Micrognathia0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0000347HP:0000347Micrognathia0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000347HP:0000347Micrognathia0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0000347HP:0000347Micrognathia0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0000347HP:0000347Micrognathia0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000347HP:0000347Micrognathia0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0000347HP:0000347Micrognathia0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0000347HP:0000347Micrognathia0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000347HP:0000347Micrognathia0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000347HP:0000347Micrognathia0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000347HP:0000347Micrognathia0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0000347HP:0000347Micrognathia0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000347HP:0000347Micrognathia0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040281 - Very frequent144
HP:0000347HP:0000347Micrognathia0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000347HP:0000347Micrognathia0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000347HP:0000347Micrognathia0NRCAM CL E G H48977994OMIM:6198332
HP:0000347HP:0000347Micrognathia0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000347HP:0000347Micrognathia0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000347HP:0000347Micrognathia0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000347HP:0000347Micrognathia0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0000347HP:0000347Micrognathia0NSDHL CL E G H5081413398ORPHA:251383CK syndrome34
HP:0000347HP:0000347Micrognathia0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000347HP:0000347Micrognathia0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defectsHP:0040283 - Occasional34
HP:0000347HP:0000347Micrognathia0NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0000347HP:0000347Micrognathia0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000347HP:0000347Micrognathia0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional5
HP:0000347HP:0000347Micrognathia0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000347HP:0000347Micrognathia0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0000347HP:0000347Micrognathia0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional1
HP:0000347HP:0000347Micrognathia0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0000347HP:0000347Micrognathia0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000347HP:0000347Micrognathia0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000347HP:0000347Micrognathia0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0000347HP:0000347Micrognathia0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000347HP:0000347Micrognathia0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000347HP:0000347Micrognathia0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000347HP:0000347Micrognathia0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000347HP:0000347Micrognathia0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0000347HP:0000347Micrognathia0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000347HP:0000347Micrognathia0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0000347HP:0000347Micrognathia0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0000347HP:0000347Micrognathia0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0000347HP:0000347Micrognathia0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000347HP:0000347Micrognathia0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000347HP:0000347Micrognathia0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0000347HP:0000347Micrognathia0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 1.2
HP:0000347HP:0000347Micrognathia0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040283 - Occasional641
HP:0000347HP:0000347Micrognathia0PAK2 CL E G H50628591OMIM:618458
HP:0000347HP:0000347Micrognathia0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000347HP:0000347Micrognathia0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000347HP:0000347Micrognathia0PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040282 - Frequent194
HP:0000347HP:0000347Micrognathia0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000347HP:0000347Micrognathia0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0000347HP:0000347Micrognathia0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000347HP:0000347Micrognathia0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000347HP:0000347Micrognathia0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0000347HP:0000347Micrognathia0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0000347HP:0000347Micrognathia0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0000347HP:0000347Micrognathia0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000347HP:0000347Micrognathia0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000347HP:0000347Micrognathia0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000347HP:0000347Micrognathia0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000347HP:0000347Micrognathia0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000347HP:0000347Micrognathia0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000347HP:0000347Micrognathia0PEX14 CL E G H51958856OMIM:614887Peroxisome biogenesis disorder 13A (Zellweger).46
HP:0000347HP:0000347Micrognathia0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000347HP:0000347Micrognathia0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000347HP:0000347Micrognathia0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000347HP:0000347Micrognathia0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000347HP:0000347Micrognathia0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000347HP:0000347Micrognathia0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000347HP:0000347Micrognathia0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0000347HP:0000347Micrognathia0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000347HP:0000347Micrognathia0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000347HP:0000347Micrognathia0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000347HP:0000347Micrognathia0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000347HP:0000347Micrognathia0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0000347HP:0000347Micrognathia0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000347HP:0000347Micrognathia0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000347HP:0000347Micrognathia0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type ItHP:0040283 - Occasional58
HP:0000347HP:0000347Micrognathia0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0000347HP:0000347Micrognathia0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000347HP:0000347Micrognathia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0000347HP:0000347Micrognathia0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0000347HP:0000347Micrognathia0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.11
HP:0000347HP:0000347Micrognathia0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0000347HP:0000347Micrognathia0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000347HP:0000347Micrognathia0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000347HP:0000347Micrognathia0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0000347HP:0000347Micrognathia0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000347HP:0000347Micrognathia0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000347HP:0000347Micrognathia0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000347HP:0000347Micrognathia0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0000347HP:0000347Micrognathia0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000347HP:0000347Micrognathia0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000347HP:0000347Micrognathia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000347HP:0000347Micrognathia0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000347HP:0000347Micrognathia0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000347HP:0000347Micrognathia0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000347HP:0000347Micrognathia0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0000347HP:0000347Micrognathia0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000347HP:0000347Micrognathia0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000347HP:0000347Micrognathia0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0000347HP:0000347Micrognathia0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000347HP:0000347Micrognathia0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000347HP:0000347Micrognathia0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040284 - Very rare563
HP:0000347HP:0000347Micrognathia0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0000347HP:0000347Micrognathia0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0000347HP:0000347Micrognathia0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000347HP:0000347Micrognathia0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent3
HP:0000347HP:0000347Micrognathia0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000347HP:0000347Micrognathia0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0000347HP:0000347Micrognathia0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0000347HP:0000347Micrognathia0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0000347HP:0000347Micrognathia0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000347HP:0000347Micrognathia0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0000347HP:0000347Micrognathia0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0000347HP:0000347Micrognathia0POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type.8
HP:0000347HP:0000347Micrognathia0POLR1B CL E G H8417220454OMIM:618939TREACHER COLLINS SYNDROME 4; TCS4
HP:0000347HP:0000347Micrognathia0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 3.38
HP:0000347HP:0000347Micrognathia0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent38
HP:0000347HP:0000347Micrognathia0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 2.31
HP:0000347HP:0000347Micrognathia0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent31
HP:0000347HP:0000347Micrognathia0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000347HP:0000347Micrognathia0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0000347HP:0000347Micrognathia0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0000347HP:0000347Micrognathia0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0000347HP:0000347Micrognathia0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000347HP:0000347Micrognathia0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0PPP3CA CL E G H55309314OMIM:618265Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.2
HP:0000347HP:0000347Micrognathia0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0000347HP:0000347Micrognathia0PQBP1 CL E G H100849330ORPHA:93946Hamel cerebro-palato-cardiac syndromeHP:0040281 - Very frequent28
HP:0000347HP:0000347Micrognathia0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0000347HP:0000347Micrognathia0PRDM13 CL E G H5933613998OMIM:6199092
HP:0000347HP:0000347Micrognathia0PRIM1 CL E G H55579369OMIM:620005
HP:0000347HP:0000347Micrognathia0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000347HP:0000347Micrognathia0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4
HP:0000347HP:0000347Micrognathia0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0000347HP:0000347Micrognathia0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0000347HP:0000347Micrognathia0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0000347HP:0000347Micrognathia0PSMC1 CL E G H57009547OMIM:6200711
HP:0000347HP:0000347Micrognathia0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000347HP:0000347Micrognathia0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000347HP:0000347Micrognathia0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040283 - Occasional54
HP:0000347HP:0000347Micrognathia0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000347HP:0000347Micrognathia0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0000347HP:0000347Micrognathia0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0000347HP:0000347Micrognathia0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0000347HP:0000347Micrognathia0PTH1R CL E G H57459608OMIM:215045Chondrodysplasia, Blomstrand type.58
HP:0000347HP:0000347Micrognathia0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0000347HP:0000347Micrognathia0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000347HP:0000347Micrognathia0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000347HP:0000347Micrognathia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0000347HP:0000347Micrognathia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000347HP:0000347Micrognathia0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000347HP:0000347Micrognathia0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent57
HP:0000347HP:0000347Micrognathia0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0000347HP:0000347Micrognathia0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000347HP:0000347Micrognathia0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000347HP:0000347Micrognathia0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040282 - Frequent85
HP:0000347HP:0000347Micrognathia0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000347HP:0000347Micrognathia0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000347HP:0000347Micrognathia0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0000347HP:0000347Micrognathia0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040282 - Frequent90
HP:0000347HP:0000347Micrognathia0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000347HP:0000347Micrognathia0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0000347HP:0000347Micrognathia0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0000347HP:0000347Micrognathia0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040282 - Frequent135
HP:0000347HP:0000347Micrognathia0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0000347HP:0000347Micrognathia0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000347HP:0000347Micrognathia0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000347HP:0000347Micrognathia0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000347HP:0000347Micrognathia0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000347HP:0000347Micrognathia0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040282 - Frequent150
HP:0000347HP:0000347Micrognathia0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000347HP:0000347Micrognathia0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent73
HP:0000347HP:0000347Micrognathia0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0000347HP:0000347Micrognathia0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12.9
HP:0000347HP:0000347Micrognathia0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000347HP:0000347Micrognathia0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0000347HP:0000347Micrognathia0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0000347HP:0000347Micrognathia0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 2.68
HP:0000347HP:0000347Micrognathia0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0000347HP:0000347Micrognathia0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0000347HP:0000347Micrognathia0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0000347HP:0000347Micrognathia0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome.10
HP:0000347HP:0000347Micrognathia0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000347HP:0000347Micrognathia0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0000347HP:0000347Micrognathia0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000347HP:0000347Micrognathia0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000347HP:0000347Micrognathia0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts type334
HP:0000347HP:0000347Micrognathia0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000347HP:0000347Micrognathia0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000347HP:0000347Micrognathia0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0000347HP:0000347Micrognathia0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0000347HP:0000347Micrognathia0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0000347HP:0000347Micrognathia0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000347HP:0000347Micrognathia0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040282 - Frequent69
HP:0000347HP:0000347Micrognathia0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000347HP:0000347Micrognathia0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000347HP:0000347Micrognathia0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000347HP:0000347Micrognathia0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0000347HP:0000347Micrognathia0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0000347HP:0000347Micrognathia0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000347HP:0000347Micrognathia0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000347HP:0000347Micrognathia0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000347HP:0000347Micrognathia0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0000347HP:0000347Micrognathia0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0000347HP:0000347Micrognathia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000347HP:0000347Micrognathia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0000347HP:0000347Micrognathia0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000347HP:0000347Micrognathia0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000347HP:0000347Micrognathia0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000347HP:0000347Micrognathia0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000347HP:0000347Micrognathia0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000347HP:0000347Micrognathia0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000347HP:0000347Micrognathia0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000347HP:0000347Micrognathia0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0000347HP:0000347Micrognathia0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0000347HP:0000347Micrognathia0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 640
HP:0000347HP:0000347Micrognathia0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0000347HP:0000347Micrognathia0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000347HP:0000347Micrognathia0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0000347HP:0000347Micrognathia0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0000347HP:0000347Micrognathia0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0000347HP:0000347Micrognathia0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000347HP:0000347Micrognathia0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000347HP:0000347Micrognathia0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000347HP:0000347Micrognathia0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 10HP:0040283 - Occasional20
HP:0000347HP:0000347Micrognathia0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000347HP:0000347Micrognathia0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000347HP:0000347Micrognathia0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis.1
HP:0000347HP:0000347Micrognathia0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000347HP:0000347Micrognathia0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000347HP:0000347Micrognathia0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2.
HP:0000347HP:0000347Micrognathia0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000347HP:0000347Micrognathia0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0000347HP:0000347Micrognathia0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0000347HP:0000347Micrognathia0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000347HP:0000347Micrognathia0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000347HP:0000347Micrognathia0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040282 - Frequent34
HP:0000347HP:0000347Micrognathia0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000347HP:0000347Micrognathia0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0000347HP:0000347Micrognathia0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000347HP:0000347Micrognathia0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0000347HP:0000347Micrognathia0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000347HP:0000347Micrognathia0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0000347HP:0000347Micrognathia0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000347HP:0000347Micrognathia0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent5
HP:0000347HP:0000347Micrognathia0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 25
HP:0000347HP:0000347Micrognathia0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0000347HP:0000347Micrognathia0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0000347HP:0000347Micrognathia0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0000347HP:0000347Micrognathia0SEMA5A CL E G H903710736ORPHA:281Monosomy 5p6
HP:0000347HP:0000347Micrognathia0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0000347HP:0000347Micrognathia0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0000347HP:0000347Micrognathia0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000347HP:0000347Micrognathia0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000347HP:0000347Micrognathia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000347HP:0000347Micrognathia0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000347HP:0000347Micrognathia0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez type49
HP:0000347HP:0000347Micrognathia0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040281 - Very frequent49
HP:0000347HP:0000347Micrognathia0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000347HP:0000347Micrognathia0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000347HP:0000347Micrognathia0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0000347HP:0000347Micrognathia0SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0000347HP:0000347Micrognathia0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0000347HP:0000347Micrognathia0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000347HP:0000347Micrognathia0SIX1 CL E G H649510887ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional50
HP:0000347HP:0000347Micrognathia0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000347HP:0000347Micrognathia0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0000347HP:0000347Micrognathia0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0000347HP:0000347Micrognathia0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000347HP:0000347Micrognathia0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0000347HP:0000347Micrognathia0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040281 - Very frequent36
HP:0000347HP:0000347Micrognathia0SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type.36
HP:0000347HP:0000347Micrognathia0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000347HP:0000347Micrognathia0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0000347HP:0000347Micrognathia0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0000347HP:0000347Micrognathia0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II.166
HP:0000347HP:0000347Micrognathia0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040283 - Occasional166
HP:0000347HP:0000347Micrognathia0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0000347HP:0000347Micrognathia0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000347HP:0000347Micrognathia0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures2
HP:0000347HP:0000347Micrognathia0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000347HP:0000347Micrognathia0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0000347HP:0000347Micrognathia0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000347HP:0000347Micrognathia0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group PHP:0040283 - Occasional274
HP:0000347HP:0000347Micrognathia0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000347HP:0000347Micrognathia0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0000347HP:0000347Micrognathia0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000347HP:0000347Micrognathia0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000347HP:0000347Micrognathia0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000347HP:0000347Micrognathia0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0000347HP:0000347Micrognathia0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0000347HP:0000347Micrognathia0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000347HP:0000347Micrognathia0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0000347HP:0000347Micrognathia0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040281 - Very frequent6
HP:0000347HP:0000347Micrognathia0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000347HP:0000347Micrognathia0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000347HP:0000347Micrognathia0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000347HP:0000347Micrognathia0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000347HP:0000347Micrognathia0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0000347HP:0000347Micrognathia0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000347HP:0000347Micrognathia0SOX9 CL E G H666211204ORPHA:718Isolated Pierre Robin syndromeHP:0040281 - Very frequent109
HP:0000347HP:0000347Micrognathia0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000347HP:0000347Micrognathia0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000347HP:0000347Micrognathia0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0000347HP:0000347Micrognathia0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0000347HP:0000347Micrognathia0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000347HP:0000347Micrognathia0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000347HP:0000347Micrognathia0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000347HP:0000347Micrognathia0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0000347HP:0000347Micrognathia0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0000347HP:0000347Micrognathia0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000347HP:0000347Micrognathia0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy.12
HP:0000347HP:0000347Micrognathia0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0000347HP:0000347Micrognathia0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040283 - Occasional14
HP:0000347HP:0000347Micrognathia0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0000347HP:0000347Micrognathia0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0000347HP:0000347Micrognathia0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000347HP:0000347Micrognathia0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0000347HP:0000347Micrognathia0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000347HP:0000347Micrognathia0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0000347HP:0000347Micrognathia0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040282 - Frequent11
HP:0000347HP:0000347Micrognathia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000347HP:0000347Micrognathia0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0000347HP:0000347Micrognathia0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000347HP:0000347Micrognathia0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0000347HP:0000347Micrognathia0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000347HP:0000347Micrognathia0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040282 - Frequent15
HP:0000347HP:0000347Micrognathia0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0000347HP:0000347Micrognathia0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000347HP:0000347Micrognathia0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000347HP:0000347Micrognathia0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0000347HP:0000347Micrognathia0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000347HP:0000347Micrognathia0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0000347HP:0000347Micrognathia0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000347HP:0000347Micrognathia0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0000347HP:0000347Micrognathia0TBX4 CL E G H949611603OMIM:147891Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.55
HP:0000347HP:0000347Micrognathia0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0000347HP:0000347Micrognathia0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent140
HP:0000347HP:0000347Micrognathia0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000347HP:0000347Micrognathia0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0000347HP:0000347Micrognathia0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0000347HP:0000347Micrognathia0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0000347HP:0000347Micrognathia0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0000347HP:0000347Micrognathia0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000347HP:0000347Micrognathia0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0000347HP:0000347Micrognathia0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII.
HP:0000347HP:0000347Micrognathia0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000347HP:0000347Micrognathia0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000347HP:0000347Micrognathia0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040281 - Very frequent6
HP:0000347HP:0000347Micrognathia0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000347HP:0000347Micrognathia0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000347HP:0000347Micrognathia0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000347HP:0000347Micrognathia0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2.253
HP:0000347HP:0000347Micrognathia0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome1
HP:0000347HP:0000347Micrognathia0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000347HP:0000347Micrognathia0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0000347HP:0000347Micrognathia0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0000347HP:0000347Micrognathia0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000347HP:0000347Micrognathia0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000347HP:0000347Micrognathia0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0000347HP:0000347Micrognathia0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0000347HP:0000347Micrognathia0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0000347HP:0000347Micrognathia0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0000347HP:0000347Micrognathia0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0000347HP:0000347Micrognathia0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0000347HP:0000347Micrognathia0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0000347HP:0000347Micrognathia0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000347HP:0000347Micrognathia0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0000347HP:0000347Micrognathia0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0000347HP:0000347Micrognathia0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000347HP:0000347Micrognathia0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000347HP:0000347Micrognathia0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000347HP:0000347Micrognathia0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0000347HP:0000347Micrognathia0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0000347HP:0000347Micrognathia0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0000347HP:0000347Micrognathia0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000347HP:0000347Micrognathia0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0000347HP:0000347Micrognathia0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0000347HP:0000347Micrognathia0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000347HP:0000347Micrognathia0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0000347HP:0000347Micrognathia0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0000347HP:0000347Micrognathia0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent2
HP:0000347HP:0000347Micrognathia0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0000347HP:0000347Micrognathia0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000347HP:0000347Micrognathia0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0000347HP:0000347Micrognathia0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000347HP:0000347Micrognathia0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000347HP:0000347Micrognathia0TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4HP:0040283 - Occasional102
HP:0000347HP:0000347Micrognathia0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000347HP:0000347Micrognathia0TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.1
HP:0000347HP:0000347Micrognathia0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathy7128
HP:0000347HP:0000347Micrognathia0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent106
HP:0000347HP:0000347Micrognathia0TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0000347HP:0000347Micrognathia0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0000347HP:0000347Micrognathia0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1HP:0040283 - Occasional14
HP:0000347HP:0000347Micrognathia0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0000347HP:0000347Micrognathia0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0000347HP:0000347Micrognathia0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndromeHP:0040283 - Occasional7
HP:0000347HP:0000347Micrognathia0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000347HP:0000347Micrognathia0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0000347HP:0000347Micrognathia0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000347HP:0000347Micrognathia0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0000347HP:0000347Micrognathia0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000347HP:0000347Micrognathia0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000347HP:0000347Micrognathia0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040281 - Very frequent13
HP:0000347HP:0000347Micrognathia0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0000347HP:0000347Micrognathia0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent33
HP:0000347HP:0000347Micrognathia0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000347HP:0000347Micrognathia0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000347HP:0000347Micrognathia0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000347HP:0000347Micrognathia0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0000347HP:0000347Micrognathia0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000347HP:0000347Micrognathia0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0000347HP:0000347Micrognathia0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0000347HP:0000347Micrognathia0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000347HP:0000347Micrognathia0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000347HP:0000347Micrognathia0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0000347HP:0000347Micrognathia0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000347HP:0000347Micrognathia0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0000347HP:0000347Micrognathia0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0000347HP:0000347Micrognathia0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0000347HP:0000347Micrognathia0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000347HP:0000347Micrognathia0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0000347HP:0000347Micrognathia0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000347HP:0000347Micrognathia0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0000347HP:0000347Micrognathia0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional14
HP:0000347HP:0000347Micrognathia0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0000347HP:0000347Micrognathia0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0000347HP:0000347Micrognathia0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0000347HP:0000347Micrognathia0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0000347HP:0000347Micrognathia0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000347HP:0000347Micrognathia0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000347HP:0000347Micrognathia0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040282 - Frequent13
HP:0000347HP:0000347Micrognathia0WT1 CL E G H749012796ORPHA:893WAGR syndromeHP:0040282 - Frequent177
HP:0000347HP:0000347Micrognathia0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000347HP:0000347Micrognathia0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9
HP:0000347HP:0000347Micrognathia0XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent9
HP:0000347HP:0000347Micrognathia0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000347HP:0000347Micrognathia0YARS2 CL E G H5106724249ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent45
HP:0000347HP:0000347Micrognathia0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000347HP:0000347Micrognathia0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000347HP:0000347Micrognathia0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0000347HP:0000347Micrognathia0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0000347HP:0000347Micrognathia0ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040281 - Very frequent9
HP:0000347HP:0000347Micrognathia0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0000347HP:0000347Micrognathia0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000347HP:0000347Micrognathia0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent10
HP:0000347HP:0000347Micrognathia0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent83
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040281 - Very frequent83
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0000347HP:0000347Micrognathia0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000347HP:0000347Micrognathia0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive.60
HP:0000347HP:0000347Micrognathia0ZNF341 CL E G H8490515992OMIM:618282Hyper-Ige recurrent infection syndrome 3, autosomal recessive.1
HP:0000347HP:0000347Micrognathia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000347HP:0000308Microretrognathia1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0000347HP:0000308Microretrognathia1ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0000347HP:0000308Microretrognathia1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000347HP:0000308Microretrognathia1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000347HP:0000308Microretrognathia1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0000347HP:0000308Microretrognathia1BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0000347HP:0000308Microretrognathia1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000347HP:0000308Microretrognathia1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000347HP:0000308Microretrognathia1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000347HP:0000308Microretrognathia1CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000347HP:0000308Microretrognathia1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000347HP:0000308Microretrognathia1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0000347HP:0000308Microretrognathia1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.HP:0003593 - Infantile onset27
HP:0000347HP:0000308Microretrognathia1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0000347HP:0000308Microretrognathia1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0000347HP:0000308Microretrognathia1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0000347HP:0000308Microretrognathia1COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0000347HP:0000308Microretrognathia1CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0000347HP:0000308Microretrognathia1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0000347HP:0000308Microretrognathia1CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000347HP:0000308Microretrognathia1CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0000347HP:0000308Microretrognathia1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000347HP:0000308Microretrognathia1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0000347HP:0000308Microretrognathia1EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0000347HP:0003778Short mandibular rami1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0000347HP:0000308Microretrognathia1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000347HP:0000308Microretrognathia1FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000347HP:0000308Microretrognathia1GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000347HP:0000308Microretrognathia1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000347HP:0000308Microretrognathia1GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000347HP:0003778Short mandibular rami1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0000347HP:0003778Short mandibular rami1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000347HP:0003778Short mandibular rami1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000347HP:0000308Microretrognathia1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000347HP:0000308Microretrognathia1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000347HP:0000308Microretrognathia1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0000347HP:0000308Microretrognathia1KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040282 - Frequent34
HP:0000347HP:0000308Microretrognathia1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent10
HP:0000347HP:0003778Short mandibular rami1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000347HP:0000308Microretrognathia1KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000347HP:0000308Microretrognathia1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000347HP:0000308Microretrognathia1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0000347HP:0000308Microretrognathia1LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000347HP:0000308Microretrognathia1MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional1269
HP:0000347HP:0000308Microretrognathia1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0000347HP:0000308Microretrognathia1NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000347HP:0000308Microretrognathia1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000347HP:0000308Microretrognathia1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent96
HP:0000347HP:0000308Microretrognathia1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000347HP:0003778Short mandibular rami1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000347HP:0000308Microretrognathia1NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000347HP:0000308Microretrognathia1NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0000347HP:0000308Microretrognathia1OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0000347HP:0000308Microretrognathia1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000347HP:0000308Microretrognathia1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000347HP:0000308Microretrognathia1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000347HP:0000308Microretrognathia1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000347HP:0003778Short mandibular rami1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0000347HP:0003778Short mandibular rami1PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0000347HP:0000308Microretrognathia1POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 231
HP:0000347HP:0000308Microretrognathia1PRDM13 CL E G H5933613998OMIM:6199092
HP:0000347HP:0000308Microretrognathia1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000347HP:0000308Microretrognathia1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000347HP:0000308Microretrognathia1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000347HP:0000308Microretrognathia1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent334
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000347HP:0000308Microretrognathia1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000347HP:0000308Microretrognathia1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000347HP:0000308Microretrognathia1RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2.
HP:0000347HP:0000308Microretrognathia1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000347HP:0000308Microretrognathia1SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0000347HP:0000308Microretrognathia1SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional144
HP:0000347HP:0000308Microretrognathia1SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0000347HP:0000308Microretrognathia1SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040281 - Very frequent49
HP:0000347HP:0000308Microretrognathia1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000347HP:0000308Microretrognathia1SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0000347HP:0000308Microretrognathia1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000347HP:0000308Microretrognathia1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0000347HP:0000308Microretrognathia1SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures.2
HP:0000347HP:0000308Microretrognathia1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0000347HP:0000308Microretrognathia1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000347HP:0000308Microretrognathia1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0000347HP:0000308Microretrognathia1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000347HP:0000308Microretrognathia1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000347HP:0000308Microretrognathia1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000347HP:0000308Microretrognathia1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000347HP:0000308Microretrognathia1TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0000347HP:0000308Microretrognathia1TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional7128
HP:0000347HP:0000308Microretrognathia1TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0000347HP:0000308Microretrognathia1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000347HP:0000308Microretrognathia1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000347HP:0000308Microretrognathia1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000347HP:0000308Microretrognathia1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000347HP:0005790Short mandibular condyles2EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0000347HP:0005790Short mandibular condyles2GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0000347HP:0005790Short mandibular condyles2GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0000347HP:0005790Short mandibular condyles2PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0000347HP:0005790Short mandibular condyles2PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0000347HP:0007627Mandibular condyle aplasia3EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0000347HP:0007628Mandibular condyle hypoplasia3EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent6
HP:0000347HP:0007627Mandibular condyle aplasia3GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0000347HP:0007628Mandibular condyle hypoplasia3GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent2
HP:0000347HP:0007627Mandibular condyle aplasia3GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0000347HP:0007628Mandibular condyle hypoplasia3GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0000347HP:0007627Mandibular condyle aplasia3PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0000347HP:0007628Mandibular condyle hypoplasia3PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent82
HP:0000347HP:0007628Mandibular condyle hypoplasia3PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0000347HP:0007627Mandibular condyle aplasia3PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82


Genes (780) :ABCD4 ACTA1 ACTB ACTG1 ACTG2 ADA2 ADAMTS2 ADAMTSL2 ADAT3 ADGRG1 ADGRG6 AEBP1 AFF3 AFF4 AGRN AHDC1 AKT1 ALDH1A2 ALG1 ALG12 ALG13 ALG14 ALG9 ALX4 AMER1 AMMECR1 ANAPC7 ANK1 ANKLE2 ANKRD11 ANTXR1 APC ARCN1 ARID1B ARID2 ARL6IP6 ARVCF ARX ASNS ASXL1 ASXL3 ATAD3A ATP6AP2 ATP6V0A2 ATP6V1B2 ATP7A ATPAF2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAZ1B BCL11B BCL7B BDNF BICD2 BICRA BLM BMP4 BMPER BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12ORF57 C1R C1S C2CD3 CA2 CACNA1C CAMTA1 CANT1 CARS1 CASK CBL CC2D2A CCDC22 CCDC32 CD96 CDC42BPB CDC45 CDC6 CDCA7 CDK5 CDKN1C CDT1 CENPE CENPF CENPJ CEP120 CEP152 CEP290 CEP55 CEP57 CFL2 CHAT CHD5 CHD7 CHN1 CHRNA1 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CLCF1 CLCN3 CLIP2 CLPB CLTCL1 CNOT2 CNTNAP1 COASY COG1 COG4 COG7 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COMT COX7B CPE CPLANE1 CPLX1 CREB3L1 CREBBP CRIPT CRLF1 CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTDP1 CTNND2 CTSK CTU2 CWC27 D2HGDH DCHS1 DDR2 DEAF1 DHCR24 DHCR7 DHODH DIS3L2 DLK1 DNA2 DNAJC21 DNAJC30 DNMT3B DOCK6 DOK7 DONSON DPAGT1 DPH1 DPH5 DPM1 DPM2 DPYD DSE DSTYK DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DZIP1L EBP ECEL1 EDN1 EDNRA EED EFEMP2 EFTUD2 EIF4A3 EIF4H EIF5A ELN EMC1 EMG1 EP300 EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERGIC1 ERMARD ESCO2 EXOC6B EXT2 EXTL3 EYA1 EZH2 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBN2 FBXL3 FBXO28 FBXW11 FDFT1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKRP FKTN FLCN FLII FLNA FLNB FLVCR2 FOCAD FOXC2 FOXF1 FZD2 GAD1 GATA1 GATA4 GATAD2B GBA1 GDF11 GEMIN4 GHR GJA1 GJA5 GJA8 GLE1 GLI3 GMNN GNA11 GNAI3 GNB2 GNPAT GNPTAB GP1BB GPC6 GPKOW GRB10 GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H19-ICR H3-3A H4C9 HACD1 HBA1 HBA2 HCCS HDAC6 HDAC8 HEATR3 HELLS HIRA HMGA2 HMX1 HNRNPH2 HNRNPR HNRNPU HOXB1 HRAS HSD17B4 HSPG2 HUWE1 HYLS1 HYMAI HYOU1 IARS2 IDUA IFT140 IFT43 IFT80 IGF1 IGF1R IGF2 IGFALS INTS1 INTU IPO8 IQSEC2 IRF6 IRX5 ITGA7 JMJD1C KAT6A KAT6B KATNB1 KBTBD13 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK4 KCNK9 KCNN3 KDM4B KDM5C KDM6A KIAA0586 KIAA0753 KIDINS220 KIF14 KIF7 KLHL41 KMT2D KNL1 KPTN KRAS LAGE3 LARGE1 LAS1L LBR LEMD2 LEMD3 LETM1 LGI4 LIFR LIG4 LIMK1 LMBRD2 LMNA LMOD3 LOXL3 LRP4 LRRC32 LTBP4 LZTR1 MAD2L2 MADD MAFB MAN2C1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MBD5 MCM5 MCTP2 MECP2 MED12 MEG3 METTL27 MID1 MINPP1 MITF MKS1 MLXIPL MMP2 MPLKIP MRAS MSTO1 MTX2 MUSK MYBPC1 MYCN MYH3 MYH7 MYH8 MYL2 MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NBN NCAPG2 NCF1 NDE1 NDUFB11 NEB NECTIN1 NEDD4L NEK1 NEK9 NELFA NF1 NFIX NIPBL NOTCH2 NOTCH3 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE2 NSUN2 NUP107 NUP133 NUP85 NUP88 NXN OCLN OCRL OFD1 ORC1 ORC4 ORC6 OSGEP OSTM1 P4HB PAH PAK2 PALB2 PAX1 PAX6 PAX7 PCNT PDE4D PDE6D PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM1 PHF21A PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGB PIGF PIGG PIGL PIGN PIGO PIGQ PIGT PIGV PIGW PIGY PIK3CA PIK3R1 PKDCC PKHD1 PLA2G6 PLAA PLAG1 PLAGL1 PLCB4 PLK4 PLXND1 POGZ POLD1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMT1 POMT2 PPP1R12A PPP1R15B PPP3CA PQBP1 PRDM13 PRIM1 PRORP PRRX1 PRUNE1 PSAT1 PSMC1 PSMD12 PSPH PTDSS1 PTEN PTH1R PTPN11 PUF60 PURA PUS1 PUS7 PYROXD1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RDH11 RECQL4 RELN RERE REV3L RFC2 RFT1 RFWD3 RHOBTB2 RIN2 RIPK4 RIT1 RLIM RNF113A RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPO2 RTL1 RTTN RUNX2 SALL4 SATB2 SC5D SCARF2 SCYL2 SEC24C SEC24D SEC31A SELENON SEMA5A SERPINH1 SETBP1 SETD5 SF3B2 SF3B4 SH2B1 SH3PXD2B SHANK3 SHOX SIM1 SIN3A SIX1 SKI SLC10A7 SLC18A3 SLC25A1 SLC25A19 SLC25A24 SLC26A2 SLC2A10 SLC35A3 SLC37A4 SLC5A7 SLX4 SMC1A SMC3 SMG8 SMO SMOC1 SNAP25 SNRPB SNRPN SOS1 SOS2 SOX6 SOX9 SP7 SPATA5L1 SPECC1L SPEG SPEN SPOP SPRED1 SPRED2 SPRTN SRPX2 SRY SSR4 STAC3 STAG1 STAG2 STRA6 STX1A SUZ12 SYT2 TAB2 TAF1 TAPT1 TARS1 TASP1 TBC1D20 TBCD TBCE TBL2 TBX1 TBX15 TBX4 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENT5A TFAP2A TGDS TGFBR1 TGFBR2 THOC6 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TNNI2 TNNT3 TNRC6B TOE1 TOPORS TOR1A TP53RK TPM2 TPM3 TPRKB TRAIP TRIO TRIP11 TRIP13 TRIP4 TRMT10A TRPS1 TRRAP TSEN54 TSR2 TTN TUBA1A TUBB TUBB3 TWIST1 TWIST2 TXNDC15 TXNL4A UBA1 UBE2T UBE3B UFD1 UNC80 UPF3B USB1 VAC14 VAMP1 VARS1 VPS13B VPS33B VPS35L VPS37D VPS53 WASHC5 WDR26 WDR35 WDR4 WDR62 WDR73 WLS WNT3 WNT5A WNT7A WT1 XRCC2 XRCC4 YARS1 YARS2 YY1 ZBTB18 ZBTB24 ZC4H2 ZDHHC9 ZMIZ1 ZMPSTE24 ZNF292 ZNF335 ZNF341 ZNF699

Diseases (766) :OMIM:614857 ORPHA:171439 ORPHA:2020 ORPHA:171436 ORPHA:2995 ORPHA:2604 ORPHA:124 ORPHA:1901 OMIM:225410 ORPHA:363528 ORPHA:98889 OMIM:616503 ORPHA:536532 OMIM:618000 OMIM:619297 ORPHA:444077 ORPHA:98914 ORPHA:412069 OMIM:615829 OMIM:615109 OMIM:620025 OMIM:608540 ORPHA:79324 OMIM:300884 OMIM:619036 ORPHA:79328 OMIM:263210 ORPHA:52022 OMIM:300373 ORPHA:2780 OMIM:300990 OMIM:619699 ORPHA:251066 OMIM:616681 ORPHA:261250 OMIM:230740 ORPHA:2067 ORPHA:261584 OMIM:617164 ORPHA:251056 OMIM:617808 ORPHA:1556 ORPHA:567 OMIM:300215 ORPHA:452 OMIM:615574 OMIM:605039 ORPHA:97297 OMIM:615485 OMIM:617183 ORPHA:496790 OMIM:618810 OMIM:301045 OMIM:278250 ORPHA:3473 ORPHA:565 OMIM:604273 ORPHA:808 OMIM:210600 OMIM:309580 ORPHA:352490 OMIM:615834 OMIM:609465 ORPHA:536467 ORPHA:93359 OMIM:271640 OMIM:245600 ORPHA:709 OMIM:261540 OMIM:130070 ORPHA:564 OMIM:614008 ORPHA:904 OMIM:617237 ORPHA:893 OMIM:618291 OMIM:619325 ORPHA:125 OMIM:607932 OMIM:608022 OMIM:614078 ORPHA:529962 OMIM:617755 OMIM:115150 OMIM:163950 OMIM:614498 ORPHA:84 ORPHA:199 ORPHA:444072 ORPHA:1052 OMIM:257300 ORPHA:1777 OMIM:218340 ORPHA:75392 ORPHA:434179 OMIM:615948 ORPHA:2785 OMIM:620029 OMIM:614756 OMIM:251450 ORPHA:33364 OMIM:300749 ORPHA:163937 ORPHA:648 ORPHA:7 OMIM:619123 ORPHA:1308 OMIM:211750 OMIM:619841 ORPHA:2554 OMIM:613805 ORPHA:2268 OMIM:616342 ORPHA:397590 OMIM:613804 OMIM:616051 OMIM:243605 OMIM:616300 OMIM:613823 OMIM:236500 OMIM:614114 OMIM:619873 OMIM:214800 ORPHA:233 OMIM:253290 OMIM:608930 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:363417 OMIM:619339 OMIM:612651 ORPHA:1545 OMIM:619512 OMIM:616271 ORPHA:453510 OMIM:618608 OMIM:616286 OMIM:618186 OMIM:618266 ORPHA:263508 OMIM:611209 OMIM:618150 ORPHA:79333 OMIM:608779 OMIM:611182 ORPHA:440354 ORPHA:250984 ORPHA:560 OMIM:154780 OMIM:604841 ORPHA:166100 OMIM:614524 OMIM:215150 ORPHA:1427 ORPHA:75840 ORPHA:536516 OMIM:616720 ORPHA:1899 OMIM:259420 ORPHA:1143 OMIM:200610 ORPHA:93346 ORPHA:94068 ORPHA:93316 OMIM:108300 ORPHA:2500 OMIM:618343 OMIM:619329 ORPHA:2556 OMIM:619326 ORPHA:2754 OMIM:277170 OMIM:194190 ORPHA:280 OMIM:616229 OMIM:618332 OMIM:180849 ORPHA:353277 OMIM:615789 OMIM:272430 OMIM:618870 OMIM:617062 ORPHA:397715 ORPHA:48431 ORPHA:281 OMIM:265800 ORPHA:763 OMIM:618142 ORPHA:166035 OMIM:250410 OMIM:600721 ORPHA:314679 OMIM:601390 OMIM:271665 ORPHA:819 OMIM:602398 ORPHA:35107 ORPHA:818 OMIM:270400 ORPHA:246 OMIM:263750 OMIM:267000 ORPHA:2849 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 OMIM:615807 OMIM:617052 OMIM:242860 OMIM:614219 ORPHA:994 OMIM:618389 OMIM:251230 OMIM:608093 ORPHA:459061 OMIM:616901 OMIM:620070 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 ORPHA:293948 OMIM:270750 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 OMIM:614104 ORPHA:731 ORPHA:401973 OMIM:300960 OMIM:615065 ORPHA:137888 OMIM:615706 OMIM:616367 ORPHA:3447 OMIM:614437 OMIM:610536 ORPHA:79113 OMIM:268305 OMIM:619376 OMIM:616875 ORPHA:480898 ORPHA:1270 OMIM:211180 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:242840 OMIM:607598 OMIM:610758 ORPHA:1466 OMIM:610756 OMIM:616570 OMIM:214150 ORPHA:75857 OMIM:268300 ORPHA:3103 ORPHA:508533 ORPHA:52429 ORPHA:1832 OMIM:259775 ORPHA:3412 OMIM:614083 OMIM:615546 OMIM:154700 ORPHA:284979 ORPHA:2462 OMIM:121050 OMIM:606220 OMIM:619777 OMIM:618914 OMIM:618156 ORPHA:2363 ORPHA:90024 OMIM:610706 ORPHA:2645 OMIM:614592 ORPHA:313855 OMIM:216340 ORPHA:3472 OMIM:236670 OMIM:610883 ORPHA:555877 ORPHA:1826 ORPHA:2484 OMIM:309350 ORPHA:90652 OMIM:304120 ORPHA:1190 ORPHA:56305 OMIM:108720 OMIM:108721 OMIM:225790 OMIM:619991 OMIM:153400 OMIM:265380 ORPHA:93328 OMIM:619124 ORPHA:251071 ORPHA:363686 OMIM:608013 OMIM:619122 OMIM:617913 ORPHA:633 ORPHA:2710 OMIM:257850 OMIM:612474 OMIM:611890 OMIM:253310 ORPHA:1486 ORPHA:672 OMIM:616835 OMIM:602483 OMIM:619503 OMIM:222765 OMIM:252500 ORPHA:93329 OMIM:258315 ORPHA:2570 ORPHA:96182 OMIM:617667 OMIM:602471 OMIM:180860 OMIM:619720 OMIM:619951 ORPHA:98791 ORPHA:163966 OMIM:300882 ORPHA:3459 OMIM:620072 ORPHA:94063 OMIM:612109 OMIM:300986 OMIM:620073 ORPHA:238769 OMIM:614744 OMIM:218040 OMIM:261515 ORPHA:1865 OMIM:224410 ORPHA:800 OMIM:255800 OMIM:309590 ORPHA:2189 OMIM:236680 ORPHA:96191 OMIM:233600 OMIM:616007 OMIM:607015 OMIM:266920 OMIM:614099 OMIM:617866 ORPHA:73272 OMIM:608747 OMIM:270450 ORPHA:140941 OMIM:618571 OMIM:617925 ORPHA:60030 OMIM:619472 ORPHA:397933 ORPHA:1300 OMIM:611174 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 ORPHA:89844 OMIM:170390 ORPHA:37553 OMIM:614098 ORPHA:435628 OMIM:618381 OMIM:612292 ORPHA:166108 OMIM:619320 OMIM:300534 OMIM:147920 OMIM:300867 OMIM:619501 OMIM:616258 OMIM:200990 OMIM:614120 OMIM:615731 OMIM:604321 ORPHA:397612 ORPHA:2065 OMIM:301006 OMIM:215140 ORPHA:1426 OMIM:619322 OMIM:620089 OMIM:617468 OMIM:601559 ORPHA:235 ORPHA:99812 OMIM:619694 ORPHA:79474 ORPHA:280365 ORPHA:740 OMIM:176670 OMIM:248370 ORPHA:1662 OMIM:619793 OMIM:212780 OMIM:619074 OMIM:613177 OMIM:605275 OMIM:619005 ORPHA:2774 OMIM:166300 OMIM:619775 OMIM:619087 OMIM:618443 ORPHA:2505 OMIM:616734 OMIM:156200 OMIM:617564 ORPHA:1596 OMIM:300055 ORPHA:93932 ORPHA:776 OMIM:309520 OMIM:300895 OMIM:305450 ORPHA:2745 ORPHA:284339 OMIM:617306 OMIM:249000 OMIM:259600 ORPHA:502423 OMIM:617675 OMIM:619127 OMIM:208150 OMIM:618524 OMIM:164280 ORPHA:391641 ORPHA:1147 ORPHA:324604 OMIM:158300 OMIM:254940 ORPHA:1358 OMIM:619941 OMIM:616549 ORPHA:276432 OMIM:300855 OMIM:616266 OMIM:615419 ORPHA:371364 OMIM:251260 OMIM:618460 ORPHA:3253 OMIM:617201 ORPHA:2751 OMIM:617022 ORPHA:363700 ORPHA:447980 OMIM:602535 OMIM:122470 ORPHA:955 OMIM:102500 ORPHA:2789 OMIM:130720 OMIM:619833 OMIM:619695 ORPHA:251383 OMIM:300831 OMIM:308050 ORPHA:436182 OMIM:617253 OMIM:618348 OMIM:616730 OMIM:618393 ORPHA:1507 OMIM:618529 OMIM:251290 ORPHA:534 OMIM:311200 ORPHA:2750 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:617729 OMIM:259720 ORPHA:2050 OMIM:112240 ORPHA:2209 OMIM:618458 OMIM:615560 OMIM:618578 ORPHA:439822 OMIM:601812 ORPHA:742 OMIM:170100 OMIM:214100 ORPHA:912 OMIM:614887 OMIM:614866 OMIM:614882 OMIM:214110 OMIM:215100 ORPHA:247262 OMIM:614921 OMIM:256520 OMIM:617991 OMIM:619708 OMIM:616531 OMIM:616843 OMIM:114300 OMIM:248700 ORPHA:2461 OMIM:300868 OMIM:618580 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:618548 ORPHA:369837 OMIM:615108 OMIM:269880 OMIM:618821 OMIM:256600 OMIM:617527 ORPHA:521426 OMIM:614669 OMIM:616171 ORPHA:570 OMIM:616364 OMIM:615381 OMIM:618336 OMIM:616462 OMIM:618939 ORPHA:861 OMIM:248390 OMIM:613717 OMIM:264090 OMIM:253280 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:618265 OMIM:617711 ORPHA:93946 OMIM:309500 OMIM:619909 OMIM:620005 OMIM:619737 OMIM:202650 ORPHA:544469 OMIM:616038 ORPHA:284417 OMIM:620071 OMIM:617516 ORPHA:79350 OMIM:151050 ORPHA:109 OMIM:158350 ORPHA:50945 OMIM:215045 OMIM:156400 ORPHA:508488 ORPHA:508498 ORPHA:314655 ORPHA:2598 OMIM:600462 OMIM:618342 OMIM:617258 ORPHA:2510 OMIM:614222 OMIM:201000 ORPHA:1387 OMIM:600118 OMIM:212720 OMIM:618577 ORPHA:1713 OMIM:618388 OMIM:615524 ORPHA:1587 OMIM:606744 ORPHA:2886 OMIM:311900 ORPHA:3320 OMIM:274000 ORPHA:436245 ORPHA:1225 OMIM:218600 OMIM:268400 OMIM:616975 ORPHA:494344 OMIM:612015 OMIM:618004 OMIM:613075 ORPHA:1234 OMIM:263650 OMIM:300978 ORPHA:2636 OMIM:210710 OMIM:268310 OMIM:300998 ORPHA:459070 OMIM:612561 OMIM:105650 OMIM:613309 OMIM:606164 OMIM:618021 ORPHA:3301 ORPHA:468631 ORPHA:1452 OMIM:119600 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 ORPHA:46059 OMIM:607330 OMIM:600920 OMIM:618766 OMIM:616294 OMIM:618651 OMIM:613848 ORPHA:798 ORPHA:404440 OMIM:615761 OMIM:164210 OMIM:154400 ORPHA:1788 ORPHA:245 ORPHA:261197 OMIM:249420 OMIM:606232 OMIM:249700 ORPHA:314795 ORPHA:171829 OMIM:613406 OMIM:182212 OMIM:618363 ORPHA:99742 OMIM:607196 OMIM:612289 ORPHA:93298 ORPHA:56304 OMIM:256050 ORPHA:628 ORPHA:93307 OMIM:208050 OMIM:615553 OMIM:619525 OMIM:613951 OMIM:300590 OMIM:610759 OMIM:619268 OMIM:241800 ORPHA:1106 OMIM:117650 ORPHA:1393 ORPHA:177907 OMIM:618971 ORPHA:140 OMIM:114290 ORPHA:718 OMIM:613849 OMIM:619616 OMIM:145420 OMIM:615959 OMIM:619312 OMIM:618829 OMIM:611431 OMIM:616200 ORPHA:1772 OMIM:300934 OMIM:255995 ORPHA:168572 ORPHA:502434 OMIM:301043 OMIM:301022 OMIM:601186 ORPHA:228410 OMIM:300966 ORPHA:480907 OMIM:616897 OMIM:618950 ORPHA:496641 OMIM:617193 OMIM:241410 ORPHA:2323 ORPHA:1727 OMIM:188400 OMIM:260660 OMIM:147891 OMIM:154500 OMIM:258860 ORPHA:2753 ORPHA:488642 OMIM:617952 OMIM:113620 OMIM:616145 ORPHA:1388 OMIM:609192 OMIM:610168 OMIM:613680 OMIM:213980 OMIM:617562 OMIM:614052 OMIM:601680 OMIM:619243 OMIM:614969 OMIM:618947 OMIM:616777 OMIM:617061 ORPHA:476126 ORPHA:93299 OMIM:616866 ORPHA:77258 OMIM:190350 OMIM:618454 ORPHA:166063 OMIM:300946 ORPHA:171680 OMIM:156610 ORPHA:300570 OMIM:617746 OMIM:209885 OMIM:619879 OMIM:608572 OMIM:301830 OMIM:244450 ORPHA:2707 OMIM:604173 OMIM:617802 OMIM:216550 ORPHA:193 OMIM:208085 OMIM:619135 OMIM:615851 OMIM:220210 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:604317 OMIM:251300 OMIM:619648 OMIM:273395 ORPHA:2879 OMIM:619418 OMIM:617557 ORPHA:506358 ORPHA:36367 OMIM:612337 OMIM:314580 OMIM:301041 OMIM:618659 OMIM:608612 ORPHA:90154 OMIM:275210 OMIM:619188 OMIM:615095 OMIM:618282 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.