Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the mandible (HP:0000277)help
Grandparent Node:
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000347HP:0000347Micrognathia0A2ML1 CL E G H144568648ORPHA1114623336610627
HP:0000347HP:0000347Micrognathia0ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA1126660601439
HP:0000347HP:0000347Micrognathia0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1406132102630
HP:0000347HP:0000347Micrognathia0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1412144102560
HP:0000347HP:0000347Micrognathia0ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000347HP:0000347Micrognathia0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0000347HP:0000347Micrognathia0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM19613841612243
HP:0000347HP:0000347Micrognathia0AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000347HP:0000347Micrognathia0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM145525230615790
HP:0000347HP:0000347Micrognathia0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000347HP:0000347Micrognathia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0000347HP:0000347Micrognathia0ALX4 CL E G H6052952022ORPHA1251450605420
HP:0000347HP:0000347Micrognathia0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0000347HP:0000347Micrognathia0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1197467300195
HP:0000347HP:0000347Micrognathia0ANK1 CL E G H286251066ORPHA1642492612641
HP:0000347HP:0000347Micrognathia0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM119129101616062
HP:0000347HP:0000347Micrognathia0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1151521316611192
HP:0000347HP:0000347Micrognathia0ANTXR1 CL E G H841682067ORPHA19021014606410
HP:0000347HP:0000347Micrognathia0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM19021014606410
HP:0000347HP:0000347Micrognathia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000347HP:0000347Micrognathia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0000347HP:0000347Micrognathia0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0000347HP:0000347Micrognathia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0000347HP:0000347Micrognathia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0000347HP:0000347Micrognathia0ATP7A CL E G H538565ORPHA11283869300011
HP:0000347HP:0000347Micrognathia0ATR CL E G H545808Baker Vinters syndromeORPHA12273882601215
HP:0000347HP:0000347Micrognathia0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM12273882601215
HP:0000347HP:0000347Micrognathia0ATRIP CL E G H84126808Baker Vinters syndromeORPHA137433499606605
HP:0000347HP:0000347Micrognathia0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11544886300032
HP:0000347HP:0000347Micrognathia0AXIN2 CL E G H831399798ORPHA12777904604025
HP:0000347HP:0000347Micrognathia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000347HP:0000347Micrognathia0B3GLCT CL E G H145173709ORPHA126620207610308
HP:0000347HP:0000347Micrognathia0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM126620207610308
HP:0000347HP:0000347Micrognathia0B9D1 CL E G H27077564ORPHA125324123614144
HP:0000347HP:0000347Micrognathia0B9D2 CL E G H80776564ORPHA15628636611951
HP:0000347HP:0000347Micrognathia0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000347HP:0000347Micrognathia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0000347HP:0000347Micrognathia0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0000347HP:0000347Micrognathia0BDNF CL E G H627893ORPHA1571033113505
HP:0000347HP:0000347Micrognathia0BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0000347HP:0000347Micrognathia0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0000347HP:0000347Micrognathia0BPTF CL E G H2186529962ORPHA11913581601819
HP:0000347HP:0000347Micrognathia0BRAF CL E G H673648ORPHA19481097164757
HP:0000347HP:0000347Micrognathia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0000347HP:0000347Micrognathia0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM19481097164757
HP:0000347HP:0000347Micrognathia0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA17891148602452
HP:0000347HP:0000347Micrognathia0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA112501149602860
HP:0000347HP:0000347Micrognathia0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM112501149602860
HP:0000347HP:0000347Micrognathia0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA12991151603719
HP:0000347HP:0000347Micrognathia0C12orf57 CL E G H1132461777ORPHA124829521615140
HP:0000347HP:0000347Micrognathia0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM124829521615140
HP:0000347HP:0000347Micrognathia0CASK CL E G H8573163937ORPHA17061497300172
HP:0000347HP:0000347Micrognathia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM17061497300172
HP:0000347HP:0000347Micrognathia0CC2D2A CL E G H57545564ORPHA1117629253612013
HP:0000347HP:0000347Micrognathia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM17216892606037
HP:0000347HP:0000347Micrognathia0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA17216892606037
HP:0000347HP:0000347Micrognathia0CDC45 CL E G H83182554ORPHA15671739603465
HP:0000347HP:0000347Micrognathia0CDC6 CL E G H9902554ORPHA11041744602627
HP:0000347HP:0000347Micrognathia0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM11041744602627
HP:0000347HP:0000347Micrognathia0CDCA7 CL E G H838792268ORPHA114514628609937
HP:0000347HP:0000347Micrognathia0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0000347HP:0000347Micrognathia0CDT1 CL E G H816202554ORPHA132624576605525
HP:0000347HP:0000347Micrognathia0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM132624576605525
HP:0000347HP:0000347Micrognathia0CENPE CL E G H1062808Baker Vinters syndromeORPHA12721856117143
HP:0000347HP:0000347Micrognathia0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM12721856117143
HP:0000347HP:0000347Micrognathia0CENPJ CL E G H55835808Baker Vinters syndromeORPHA143817272609279
HP:0000347HP:0000347Micrognathia0CEP152 CL E G H22995808Baker Vinters syndromeORPHA145029298613529
HP:0000347HP:0000347Micrognathia0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM145029298613529
HP:0000347HP:0000347Micrognathia0CEP290 CL E G H80184564ORPHA1225129021610142
HP:0000347HP:0000347Micrognathia0CEP55 CL E G H55165564ORPHA1571161610000
HP:0000347HP:0000347Micrognathia0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA131130794607951
HP:0000347HP:0000347Micrognathia0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1231820626608892
HP:0000347HP:0000347Micrognathia0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000347HP:0000347Micrognathia0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0000347HP:0000347Micrognathia0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0000347HP:0000347Micrognathia0CHRNG CL E G H11462990ORPHA12201967100730
HP:0000347HP:0000347Micrognathia0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0000347HP:0000347Micrognathia0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0000347HP:0000347Micrognathia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0000347HP:0000347Micrognathia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0000347HP:0000347Micrognathia0COASY CL E G H80347618266618266618266OMIM117529932609855
HP:0000347HP:0000347Micrognathia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0000347HP:0000347Micrognathia0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM126218620606976
HP:0000347HP:0000347Micrognathia0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0000347HP:0000347Micrognathia0COL10A1 CL E G H1300174Macrogyria, pseudobulbar palsy and mental retardationORPHA12952185120110
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H1301560ORPHA116712186120280
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H1301250984ORPHA116712186120280
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H1301440354ORPHA116712186120280
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM116712186120280
HP:0000347HP:0000347Micrognathia0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM116712186120280
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H1302166100ORPHA112402187120290
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H1302614524Fibrochondrogenesis 2614524C3281128OMIM112402187120290
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0000347HP:0000347Micrognathia0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM112402187120290
HP:0000347HP:0000347Micrognathia0COL12A1 CL E G H130375840ORPHA119442188120320
HP:0000347HP:0000347Micrognathia0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0000347HP:0000347Micrognathia0COL1A1 CL E G H12771899ORPHA120162197120150
HP:0000347HP:0000347Micrognathia0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM120162197120150
HP:0000347HP:0000347Micrognathia0COL1A2 CL E G H12781899ORPHA114582198120160
HP:0000347HP:0000347Micrognathia0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM114582198120160
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H128093296ORPHA118202200120140
HP:0000347HP:0000347Micrognathia0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0000347HP:0000347Micrognathia0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA122742201120180
HP:0000347HP:0000347Micrognathia0COL6A1 CL E G H129175840ORPHA114702211120220
HP:0000347HP:0000347Micrognathia0COL6A2 CL E G H129275840ORPHA116442212120240
HP:0000347HP:0000347Micrognathia0COL6A3 CL E G H129375840ORPHA124142213120250
HP:0000347HP:0000347Micrognathia0COL9A1 CL E G H1297250984ORPHA18922217120210
HP:0000347HP:0000347Micrognathia0COL9A2 CL E G H1298250984ORPHA16042218120260
HP:0000347HP:0000347Micrognathia0COL9A3 CL E G H1299250984ORPHA19072219120270
HP:0000347HP:0000347Micrognathia0COX7B CL E G H13492556ORPHA11732291300885
HP:0000347HP:0000347Micrognathia0CPLANE1 CL E G H652502754ORPHA1142625801614571
HP:0000347HP:0000347Micrognathia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1142625801614571
HP:0000347HP:0000347Micrognathia0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11672309605032
HP:0000347HP:0000347Micrognathia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0000347HP:0000347Micrognathia0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0000347HP:0000347Micrognathia0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11962457115440
HP:0000347HP:0000347Micrognathia0CSPP1 CL E G H79848564ORPHA179326193611654
HP:0000347HP:0000347Micrognathia0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM12172494602618
HP:0000347HP:0000347Micrognathia0CTDP1 CL E G H915048431ORPHA13832498604927
HP:0000347HP:0000347Micrognathia0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM12352536601105
HP:0000347HP:0000347Micrognathia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM117328005617057
HP:0000347HP:0000347Micrognathia0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM124410664617170
HP:0000347HP:0000347Micrognathia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM139428358609186
HP:0000347HP:0000347Micrognathia0DCHS1 CL E G H8642601390601390601390OMIM163613681603057
HP:0000347HP:0000347Micrognathia0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12662731191311
HP:0000347HP:0000347Micrognathia0DEAF1 CL E G H10522819ORPHA145214677602635
HP:0000347HP:0000347Micrognathia0DHCR24 CL E G H171835107ORPHA12162859606418
HP:0000347HP:0000347Micrognathia0DHCR7 CL E G H1717818ORPHA16482860602858
HP:0000347HP:0000347Micrognathia0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0000347HP:0000347Micrognathia0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11612867126064
HP:0000347HP:0000347Micrognathia0DHODH CL E G H1723246Schisis associationORPHA11612867126064
HP:0000347HP:0000347Micrognathia0DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0000347HP:0000347Micrognathia0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0000347HP:0000347Micrognathia0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM13312939601810
HP:0000347HP:0000347Micrognathia0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM123627030617048
HP:0000347HP:0000347Micrognathia0DNMT3B CL E G H17892268ORPHA14632979602900
HP:0000347HP:0000347Micrognathia0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14632979602900
HP:0000347HP:0000347Micrognathia0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM156119189614194
HP:0000347HP:0000347Micrognathia0DOK7 CL E G H285489994ORPHA184026594610285
HP:0000347HP:0000347Micrognathia0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM184026594610285
HP:0000347HP:0000347Micrognathia0DPAGT1 CL E G H179886309ORPHA12582995191350
HP:0000347HP:0000347Micrognathia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0000347HP:0000347Micrognathia0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM11063003603527
HP:0000347HP:0000347Micrognathia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0000347HP:0000347Micrognathia0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11383006603564
HP:0000347HP:0000347Micrognathia0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM110229043612666
HP:0000347HP:0000347Micrognathia0DVL1 CL E G H18553107ORPHA14923084601365
HP:0000347HP:0000347Micrognathia0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM14923084601365
HP:0000347HP:0000347Micrognathia0DVL3 CL E G H18573107ORPHA11893087601368
HP:0000347HP:0000347Micrognathia0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM11893087601368
HP:0000347HP:0000347Micrognathia0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM11893087601368
HP:0000347HP:0000347Micrognathia0DYNC2H1 CL E G H7965993271ORPHA115212962603297
HP:0000347HP:0000347Micrognathia0DZIP1L CL E G H199221731ORPHA19026551617570
HP:0000347HP:0000347Micrognathia0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM11703147605896
HP:0000347HP:0000347Micrognathia0EDA CL E G H189699798ORPHA15293157300451
HP:0000347HP:0000347Micrognathia0EDARADD CL E G H12817899798ORPHA120214341606603
HP:0000347HP:0000347Micrognathia0EDN1 CL E G H1906615706Auriculocondylar syndrome 3615706C3810332OMIM1523176131240
HP:0000347HP:0000347Micrognathia0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM1793179131243
HP:0000347HP:0000347Micrognathia0EED CL E G H87263447ORPHA1973188605984
HP:0000347HP:0000347Micrognathia0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM13583219604633
HP:0000347HP:0000347Micrognathia0EFTUD2 CL E G H934379113ORPHA136330858603892
HP:0000347HP:0000347Micrognathia0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM136330858603892
HP:0000347HP:0000347Micrognathia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0000347HP:0000347Micrognathia0EMG1 CL E G H104361270ORPHA16816912611531
HP:0000347HP:0000347Micrognathia0EMG1 CL E G H10436211180Bowen-Conradi syndrome211180C1859405OMIM16816912611531
HP:0000347HP:0000347Micrognathia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0000347HP:0000347Micrognathia0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0000347HP:0000347Micrognathia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1121329331615068
HP:0000347HP:0000347Micrognathia0ERBB3 CL E G H2065607598Lethal congenital contracture syndrome 2607598C1843478OMIM1973431190151
HP:0000347HP:0000347Micrognathia0ERCC1 CL E G H20671466ORPHA11133433126380
HP:0000347HP:0000347Micrognathia0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0000347HP:0000347Micrognathia0ERCC2 CL E G H20681466ORPHA111963434126340
HP:0000347HP:0000347Micrognathia0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM111963434126340
HP:0000347HP:0000347Micrognathia0ERCC5 CL E G H20731466ORPHA14253437133530
HP:0000347HP:0000347Micrognathia0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM14253437133530
HP:0000347HP:0000347Micrognathia0ERCC6 CL E G H20741466ORPHA111703438609413
HP:0000347HP:0000347Micrognathia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000347HP:0000347Micrognathia0ERMARD CL E G H5578075857ORPHA123821056615532
HP:0000347HP:0000347Micrognathia0ESCO2 CL E G H1575703103ORPHA143527230609353
HP:0000347HP:0000347Micrognathia0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM143527230609353
HP:0000347HP:0000347Micrognathia0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM143527230609353
HP:0000347HP:0000347Micrognathia0EXT2 CL E G H213252022ORPHA15323513608210
HP:0000347HP:0000347Micrognathia0EZH2 CL E G H21463447ORPHA14163527601573
HP:0000347HP:0000347Micrognathia0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA135022140611061
HP:0000347HP:0000347Micrognathia0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM135022140611061
HP:0000347HP:0000347Micrognathia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1131223109612411
HP:0000347HP:0000347Micrognathia0FBN1 CL E G H22002462ORPHA159703603134797
HP:0000347HP:0000347Micrognathia0FBN1 CL E G H2200284979ORPHA159703603134797
HP:0000347HP:0000347Micrognathia0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM159703603134797
HP:0000347HP:0000347Micrognathia0FGF3 CL E G H224890024ORPHA1803681164950
HP:0000347HP:0000347Micrognathia0FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0000347HP:0000347Micrognathia0FGFR1 CL E G H22602645ORPHA16883688136350
HP:0000347HP:0000347Micrognathia0FGFR1 CL E G H226099798ORPHA16883688136350
HP:0000347HP:0000347Micrognathia0FGFR2 CL E G H2263313855ORPHA15673689176943
HP:0000347HP:0000347Micrognathia0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM15673689176943
HP:0000347HP:0000347Micrognathia0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12883693605830
HP:0000347HP:0000347Micrognathia0FIG4 CL E G H98963472MeningococcemiaORPHA174916873609390
HP:0000347HP:0000347Micrognathia0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM174916873609390
HP:0000347HP:0000347Micrognathia0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0000347HP:0000347Micrognathia0FLII CL E G H2314819ORPHA11543750600362
HP:0000347HP:0000347Micrognathia0FLNA CL E G H231690652ORPHA125383754300017
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA125383754300017
HP:0000347HP:0000347Micrognathia0FLNA CL E G H23162484Glaucoma type 1CORPHA125383754300017
HP:0000347HP:0000347Micrognathia0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM125383754300017
HP:0000347HP:0000347Micrognathia0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM125383754300017
HP:0000347HP:0000347Micrognathia0FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM111553755603381
HP:0000347HP:0000347Micrognathia0FLNB CL E G H2317108721Atelosteogenesis type 3108721C3668942OMIM111553755603381
HP:0000347HP:0000347Micrognathia0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM114120105610865
HP:0000347HP:0000347Micrognathia0FZD2 CL E G H25353107ORPHA1804040600667
HP:0000347HP:0000347Micrognathia0GATA4 CL E G H2626251071ORPHA16304173600576
HP:0000347HP:0000347Micrognathia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0000347HP:0000347Micrognathia0GHR CL E G H2690633ORPHA12644263600946
HP:0000347HP:0000347Micrognathia0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM12214274121014
HP:0000347HP:0000347Micrognathia0GLE1 CL E G H27331486Congenital herpes simplexORPHA13824315603371
HP:0000347HP:0000347Micrognathia0GLE1 CL E G H2733253310Lethal congenital contracture syndrome 1253310C1854664OMIM13824315603371
HP:0000347HP:0000347Micrognathia0GMNN CL E G H510532554ORPHA15417493602842
HP:0000347HP:0000347Micrognathia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12614416602744
HP:0000347HP:0000347Micrognathia0GPC6 CL E G H1008293329ORPHA13384454604404
HP:0000347HP:0000347Micrognathia0GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM13384454604404
HP:0000347HP:0000347Micrognathia0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM1644612138890
HP:0000347HP:0000347Micrognathia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0000347HP:0000347Micrognathia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0000347HP:0000347Micrognathia0H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM1584713103280
HP:0000347HP:0000347Micrognathia0HBA1 CL E G H303998791ORPHA13794823141800
HP:0000347HP:0000347Micrognathia0HBA2 CL E G H304098791ORPHA13334824141850
HP:0000347HP:0000347Micrognathia0HCCS CL E G H30522556ORPHA12184837300056
HP:0000347HP:0000347Micrognathia0HDAC8 CL E G H558693459ORPHA132213315300269
HP:0000347HP:0000347Micrognathia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0000347HP:0000347Micrognathia0HELLS CL E G H30702268ORPHA11944861603946
HP:0000347HP:0000347Micrognathia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0000347HP:0000347Micrognathia0HNRNPU CL E G H3192238769ORPHA16925048602869
HP:0000347HP:0000347Micrognathia0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0000347HP:0000347Micrognathia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H33391865ORPHA118305273142461
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H3339224410Lethal Kniest-like syndrome224410C0432208OMIM118305273142461
HP:0000347HP:0000347Micrognathia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0000347HP:0000347Micrognathia0HYLS1 CL E G H2198442189ORPHA122926558610693
HP:0000347HP:0000347Micrognathia0HYMAI CL E G H5706196191ORPHA1175326606546
HP:0000347HP:0000347Micrognathia0HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM129816931601746
HP:0000347HP:0000347Micrognathia0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM121219612325
HP:0000347HP:0000347Micrognathia0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0000347HP:0000347Micrognathia0IFT80 CL E G H5756093271ORPHA146629262611177
HP:0000347HP:0000347Micrognathia0IGF1 CL E G H347973272ORPHA11835464147440
HP:0000347HP:0000347Micrognathia0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11835464147440
HP:0000347HP:0000347Micrognathia0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0000347HP:0000347Micrognathia0IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM1985466147470
HP:0000347HP:0000347Micrognathia0IGFALS CL E G H3483140941ORPHA11655468601489
HP:0000347HP:0000347Micrognathia0IMPAD1 CL E G H54928614078Chondrodysplasia with joint dislocations, GPAPP type614078C3279757OMIM126019614010
HP:0000347HP:0000347Micrognathia0IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0000347HP:0000347Micrognathia0IRF6 CL E G H36641300ORPHA12786121607199
HP:0000347HP:0000347Micrognathia0IRF6 CL E G H366499798ORPHA12786121607199
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H23522648ORPHA160517582605880
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H235223047ORPHA160517582605880
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H2352285201ORPHA160517582605880
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM160517582605880
HP:0000347HP:0000347Micrognathia0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM160517582605880
HP:0000347HP:0000347Micrognathia0KCNJ6 CL E G H3763435628ORPHA11226267600877
HP:0000347HP:0000347Micrognathia0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11226267600877
HP:0000347HP:0000347Micrognathia0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM159611114314690
HP:0000347HP:0000347Micrognathia0KIAA0753 CL E G H98512754ORPHA121729110617112
HP:0000347HP:0000347Micrognathia0KIF7 CL E G H3746542189ORPHA197730497611254
HP:0000347HP:0000347Micrognathia0KIF7 CL E G H3746542754ORPHA197730497611254
HP:0000347HP:0000347Micrognathia0KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM197730497611254
HP:0000347HP:0000347Micrognathia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0000347HP:0000347Micrognathia0KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM131924054609173
HP:0000347HP:0000347Micrognathia0KRAS CL E G H3845648ORPHA14406407190070
HP:0000347HP:0000347Micrognathia0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM123326058300060
HP:0000347HP:0000347Micrognathia0LAS1L CL E G H818873459ORPHA124325726300964
HP:0000347HP:0000347Micrognathia0LBR CL E G H39301426Coleman Randall syndromeORPHA12856518600024
HP:0000347HP:0000347Micrognathia0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12856518600024
HP:0000347HP:0000347Micrognathia0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12636556604407
HP:0000347HP:0000347Micrognathia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12636556604407
HP:0000347HP:0000347Micrognathia0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000347HP:0000347Micrognathia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0000347HP:0000347Micrognathia0LIG4 CL E G H3981235ORPHA15106601601837
HP:0000347HP:0000347Micrognathia0LIG4 CL E G H398199812ORPHA15106601601837
HP:0000347HP:0000347Micrognathia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0000347HP:0000347Micrognathia0LMNA CL E G H40001662ORPHA116226636150330
HP:0000347HP:0000347Micrognathia0LMNA CL E G H400079474ORPHA116226636150330
HP:0000347HP:0000347Micrognathia0LMNA CL E G H4000280365ORPHA116226636150330
HP:0000347HP:0000347Micrognathia0LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0000347HP:0000347Micrognathia0LMNA CL E G H4000176670Hutchinson-Gilford syndrome176670C0033300OMIM116226636150330
HP:0000347HP:0000347Micrognathia0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM116226636150330
HP:0000347HP:0000347Micrognathia0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0000347HP:0000347Micrognathia0LRP4 CL E G H4038212780Syndactyly Cenani Lenz type212780C1859309OMIM17906696604270
HP:0000347HP:0000347Micrognathia0LRP6 CL E G H404099798ORPHA12536698603507
HP:0000347HP:0000347Micrognathia0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM15406717604710
HP:0000347HP:0000347Micrognathia0LZTR1 CL E G H8216648ORPHA124086742600574
HP:0000347HP:0000347Micrognathia0MAFB CL E G H99352774Hydrocephalus growth retardation skeletal anomaliesORPHA11196408608968
HP:0000347HP:0000347Micrognathia0MAFB CL E G H9935166300Multicentric osteolysis nephropathy166300C2674705OMIM11196408608968
HP:0000347HP:0000347Micrognathia0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13986840176872
HP:0000347HP:0000347Micrognathia0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA11616859602614
HP:0000347HP:0000347Micrognathia0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1646891605789
HP:0000347HP:0000347Micrognathia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM1114920444611472
HP:0000347HP:0000347Micrognathia0MCTP2 CL E G H557841596ORPHA110325636616297
HP:0000347HP:0000347Micrognathia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM117786990300005
HP:0000347HP:0000347Micrognathia0MED12 CL E G H9968776ORPHA1123611957300188
HP:0000347HP:0000347Micrognathia0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1123611957300188
HP:0000347HP:0000347Micrognathia0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM1123611957300188
HP:0000347HP:0000347Micrognathia0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1123611957300188
HP:0000347HP:0000347Micrognathia0MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM13947105156845
HP:0000347HP:0000347Micrognathia0MKS1 CL E G H54903564ORPHA16627121609883
HP:0000347HP:0000347Micrognathia0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM16627121609883
HP:0000347HP:0000347Micrognathia0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000347HP:0000347Micrognathia0MSTO1 CL E G H55154502423ORPHA18529678617619
HP:0000347HP:0000347Micrognathia0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0000347HP:0000347Micrognathia0MSX1 CL E G H448799798ORPHA11637391142983
HP:0000347HP:0000347Micrognathia0MUSK CL E G H4593994ORPHA14967525601296
HP:0000347HP:0000347Micrognathia0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM14967525601296
HP:0000347HP:0000347Micrognathia0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM11467559164840
HP:0000347HP:0000347Micrognathia0MYH3 CL E G H46211147ORPHA16417573160720
HP:0000347HP:0000347Micrognathia0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000347HP:0000347Micrognathia0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM12897578160741
HP:0000347HP:0000347Micrognathia0MYMK CL E G H3898271358ORPHA17533778615345
HP:0000347HP:0000347Micrognathia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0000347HP:0000347Micrognathia0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1116218150607295
HP:0000347HP:0000347Micrognathia0MYOD1 CL E G H4654994ORPHA1357611159970
HP:0000347HP:0000347Micrognathia0NALCN CL E G H2592321147ORPHA165319082611549
HP:0000347HP:0000347Micrognathia0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM165319082611549
HP:0000347HP:0000347Micrognathia0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM165319082611549
HP:0000347HP:0000347Micrognathia0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM130747652602667
HP:0000347HP:0000347Micrognathia0NDUFB11 CL E G H545392556ORPHA118020372300403
HP:0000347HP:0000347Micrognathia0NECTIN1 CL E G H58183253Limb dystoniaORPHA12089706600644
HP:0000347HP:0000347Micrognathia0NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM17387728606384
HP:0000347HP:0000347Micrognathia0NEK9 CL E G H91754617022Lethal congenital contracture syndrome 10617022C4310760OMIM18218591609798
HP:0000347HP:0000347Micrognathia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117412768606026
HP:0000347HP:0000347Micrognathia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0000347HP:0000347Micrognathia0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0000347HP:0000347Micrognathia0NOTCH2 CL E G H4853955ORPHA17507882600275
HP:0000347HP:0000347Micrognathia0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0000347HP:0000347Micrognathia0NOTCH3 CL E G H48542789ORPHA111337883600276
HP:0000347HP:0000347Micrognathia0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0000347HP:0000347Micrognathia0NRAS CL E G H4893648ORPHA12507989164790
HP:0000347HP:0000347Micrognathia0NSD1 CL E G H643243447ORPHA1139014234606681
HP:0000347HP:0000347Micrognathia0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM136312766602952
HP:0000347HP:0000347Micrognathia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA136312766602952
HP:0000347HP:0000347Micrognathia0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0000347HP:0000347Micrognathia0NSMCE2 CL E G H286053436182ORPHA18626513617246
HP:0000347HP:0000347Micrognathia0NSUN2 CL E G H54888235ORPHA144325994610916
HP:0000347HP:0000347Micrognathia0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM114929914607617
HP:0000347HP:0000347Micrognathia0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA123518008612895
HP:0000347HP:0000347Micrognathia0OFD1 CL E G H84812754ORPHA17892567300170
HP:0000347HP:0000347Micrognathia0ORC1 CL E G H49982554ORPHA12148487601902
HP:0000347HP:0000347Micrognathia0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM12148487601902
HP:0000347HP:0000347Micrognathia0ORC4 CL E G H50002554ORPHA11668490603056
HP:0000347HP:0000347Micrognathia0ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM11668490603056
HP:0000347HP:0000347Micrognathia0ORC6 CL E G H235942554ORPHA113117151607213
HP:0000347HP:0000347Micrognathia0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM110618028610107
HP:0000347HP:0000347Micrognathia0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM121821652607649
HP:0000347HP:0000347Micrognathia0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM11678548176790
HP:0000347HP:0000347Micrognathia0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA11678548176790
HP:0000347HP:0000347Micrognathia0PAX6 CL E G H5080893ORPHA16888620607108
HP:0000347HP:0000347Micrognathia0PAX9 CL E G H508399798ORPHA11798623167416
HP:0000347HP:0000347Micrognathia0PCNT CL E G H5116808Baker Vinters syndromeORPHA1150516068605925
HP:0000347HP:0000347Micrognathia0PDE6D CL E G H51472754ORPHA1718788602676
HP:0000347HP:0000347Micrognathia0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0000347HP:0000347Micrognathia0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA13628840613230
HP:0000347HP:0000347Micrognathia0PEX1 CL E G H5189912ORPHA112058850602136
HP:0000347HP:0000347Micrognathia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0000347HP:0000347Micrognathia0PEX10 CL E G H5192912ORPHA16548851602859
HP:0000347HP:0000347Micrognathia0PEX11B CL E G H8799912ORPHA13508853603867
HP:0000347HP:0000347Micrognathia0PEX12 CL E G H5193912ORPHA13608854601758
HP:0000347HP:0000347Micrognathia0PEX13 CL E G H5194912ORPHA13978855601789
HP:0000347HP:0000347Micrognathia0PEX14 CL E G H5195912ORPHA13748856601791
HP:0000347HP:0000347Micrognathia0PEX14 CL E G H5195614887Peroxisome biogenesis disorder 13A614887C3554004OMIM13748856601791
HP:0000347HP:0000347Micrognathia0PEX16 CL E G H9409912ORPHA13468857603360
HP:0000347HP:0000347Micrognathia0PEX19 CL E G H5824912ORPHA13049713600279
HP:0000347HP:0000347Micrognathia0PEX2 CL E G H5828912ORPHA13669717170993
HP:0000347HP:0000347Micrognathia0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13669717170993
HP:0000347HP:0000347Micrognathia0PEX26 CL E G H55670912ORPHA143122965608666
HP:0000347HP:0000347Micrognathia0PEX3 CL E G H8504912ORPHA12718858603164
HP:0000347HP:0000347Micrognathia0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0000347HP:0000347Micrognathia0PEX5 CL E G H5830912ORPHA16899719600414
HP:0000347HP:0000347Micrognathia0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0000347HP:0000347Micrognathia0PEX6 CL E G H5190912ORPHA110858859601498
HP:0000347HP:0000347Micrognathia0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM14418860601757
HP:0000347HP:0000347Micrognathia0PHF21A CL E G H5131752022ORPHA19224156608325
HP:0000347HP:0000347Micrognathia0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM15198923606879
HP:0000347HP:0000347Micrognathia0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM124915673612870
HP:0000347HP:0000347Micrognathia0PI4KA CL E G H5297616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis616531C4225295OMIM16318983600286
HP:0000347HP:0000347Micrognathia0PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0000347HP:0000347Micrognathia0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM175526270613629
HP:0000347HP:0000347Micrognathia0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM175526270613629
HP:0000347HP:0000347Micrognathia0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0000347HP:0000347Micrognathia0PIGN CL E G H235562059ORPHA18578967606097
HP:0000347HP:0000347Micrognathia0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM18578967606097
HP:0000347HP:0000347Micrognathia0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000347HP:0000347Micrognathia0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13688979171833
HP:0000347HP:0000347Micrognathia0PKHD1 CL E G H5314731ORPHA133979016606702
HP:0000347HP:0000347Micrognathia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0000347HP:0000347Micrognathia0PLAA CL E G H9373521426ORPHA13389043603873
HP:0000347HP:0000347Micrognathia0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0000347HP:0000347Micrognathia0PLAGL1 CL E G H532596191ORPHA1329046603044
HP:0000347HP:0000347Micrognathia0PLK4 CL E G H10733808Baker Vinters syndromeORPHA140711397605031
HP:0000347HP:0000347Micrognathia0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM140711397605031
HP:0000347HP:0000347Micrognathia0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0000347HP:0000347Micrognathia0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM141517264616404
HP:0000347HP:0000347Micrognathia0POLR1C CL E G H9533861ORPHA1126720194610060
HP:0000347HP:0000347Micrognathia0POLR1C CL E G H9533248390Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive248390C1855433OMIM1126720194610060
HP:0000347HP:0000347Micrognathia0POLR1D CL E G H51082861ORPHA19420422613715
HP:0000347HP:0000347Micrognathia0POLR1D CL E G H51082613717Treacher Collins syndrome 2613717C3150983OMIM19420422613715
HP:0000347HP:0000347Micrognathia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM178530074614258
HP:0000347HP:0000347Micrognathia0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM194319139606822
HP:0000347HP:0000347Micrognathia0PQBP1 CL E G H1008493946ORPHA12699330300463
HP:0000347HP:0000347Micrognathia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12699330300463
HP:0000347HP:0000347Micrognathia0PRRX1 CL E G H5396202650Dysgnathia complex202650C1876185OMIM1379142167420
HP:0000347HP:0000347Micrognathia0PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM144319129610936
HP:0000347HP:0000347Micrognathia0PSMD12 CL E G H5718529962ORPHA1539557604450
HP:0000347HP:0000347Micrognathia0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1539557604450
HP:0000347HP:0000347Micrognathia0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11319587612792
HP:0000347HP:0000347Micrognathia0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000347HP:0000347Micrognathia0PTH1R CL E G H574550945ORPHA12009608168468
HP:0000347HP:0000347Micrognathia0PTH1R CL E G H5745215045Chondrodysplasia Blomstrand type215045C1859148OMIM12009608168468
HP:0000347HP:0000347Micrognathia0PTH1R CL E G H5745156400Metaphyseal chondrodysplasia, Jansen type156400C0265295OMIM12009608168468
HP:0000347HP:0000347Micrognathia0PTPN11 CL E G H5781648ORPHA17169644176876
HP:0000347HP:0000347Micrognathia0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM17169644176876
HP:0000347HP:0000347Micrognathia0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA133715508608109
HP:0000347HP:0000347Micrognathia0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM133715508608109
HP:0000347HP:0000347Micrognathia0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0000347HP:0000347Micrognathia0RAB18 CL E G H229312510ORPHA118014244602207
HP:0000347HP:0000347Micrognathia0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM118014244602207
HP:0000347HP:0000347Micrognathia0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM118714263606144
HP:0000347HP:0000347Micrognathia0RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0000347HP:0000347Micrognathia0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA131717063602536
HP:0000347HP:0000347Micrognathia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM131717063602536
HP:0000347HP:0000347Micrognathia0RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0000347HP:0000347Micrognathia0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA147417168609275
HP:0000347HP:0000347Micrognathia0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM147417168609275
HP:0000347HP:0000347Micrognathia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12939811606462
HP:0000347HP:0000347Micrognathia0RAF1 CL E G H5894648ORPHA18279829164760
HP:0000347HP:0000347Micrognathia0RAI1 CL E G H10743819ORPHA111499834607642
HP:0000347HP:0000347Micrognathia0RAI1 CL E G H107431713ORPHA111499834607642
HP:0000347HP:0000347Micrognathia0RAPSN CL E G H5913994ORPHA14339863601592
HP:0000347HP:0000347Micrognathia0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM14339863601592
HP:0000347HP:0000347Micrognathia0RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM1979865180220
HP:0000347HP:0000347Micrognathia0RASA2 CL E G H5922648ORPHA13719872601589
HP:0000347HP:0000347Micrognathia0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA124879884614041
HP:0000347HP:0000347Micrognathia0RBBP8 CL E G H5932808Baker Vinters syndromeORPHA12379891604124
HP:0000347HP:0000347Micrognathia0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM12379891604124
HP:0000347HP:0000347Micrognathia0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM12299896300080
HP:0000347HP:0000347Micrognathia0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM12319905605313
HP:0000347HP:0000347Micrognathia0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM136669949603780
HP:0000347HP:0000347Micrognathia0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM13439965605226
HP:0000347HP:0000347Micrognathia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0000347HP:0000347Micrognathia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM139930220611908
HP:0000347HP:0000347Micrognathia0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM139918756607352
HP:0000347HP:0000347Micrognathia0RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA1272496605706
HP:0000347HP:0000347Micrognathia0RIT1 CL E G H6016648ORPHA121010023609591
HP:0000347HP:0000347Micrognathia0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118713429300379
HP:0000347HP:0000347Micrognathia0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA121434016601428
HP:0000347HP:0000347Micrognathia0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM121434016601428
HP:0000347HP:0000347Micrognathia0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA147410257602337
HP:0000347HP:0000347Micrognathia0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM147410257602337
HP:0000347HP:0000347Micrognathia0RPGRIP1 CL E G H57096564ORPHA178613436605446
HP:0000347HP:0000347Micrognathia0RPGRIP1L CL E G H23322564ORPHA1113529168610937
HP:0000347HP:0000347Micrognathia0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM120110360603634
HP:0000347HP:0000347Micrognathia0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117210402603474
HP:0000347HP:0000347Micrognathia0RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM11810418603685
HP:0000347HP:0000347Micrognathia0RRAS CL E G H6237648ORPHA121310447165090
HP:0000347HP:0000347Micrognathia0RSPO2 CL E G H3404193301Lowry syndromeORPHA15528583610575
HP:0000347HP:0000347Micrognathia0RUNX2 CL E G H8601452ORPHA137310472600211
HP:0000347HP:0000347Micrognathia0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM137310472600211
HP:0000347HP:0000347Micrognathia0SATB2 CL E G H23314251019ORPHA156621637608148
HP:0000347HP:0000347Micrognathia0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM156621637608148
HP:0000347HP:0000347Micrognathia0SC5D CL E G H630946059ORPHA122010547602286
HP:0000347HP:0000347Micrognathia0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA128610706607186
HP:0000347HP:0000347Micrognathia0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM145110727608166
HP:0000347HP:0000347Micrognathia0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM11621546600943
HP:0000347HP:0000347Micrognathia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA161725566615743
HP:0000347HP:0000347Micrognathia0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM161725566615743
HP:0000347HP:0000347Micrognathia0SF3B4 CL E G H10262245ORPHA18610771605593
HP:0000347HP:0000347Micrognathia0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM18610771605593
HP:0000347HP:0000347Micrognathia0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM142829242613293
HP:0000347HP:0000347Micrognathia0SHOX CL E G H6473314795ORPHA131110853312865
HP:0000347HP:0000347Micrognathia0SHOX CL E G H6473249700Langer mesomelic dysplasia syndrome249700C0432230OMIM131110853312865
HP:0000347HP:0000347Micrognathia0SKI CL E G H64972462ORPHA191010896164780
HP:0000347HP:0000347Micrognathia0SLC25A19 CL E G H6038699742ORPHA113614409606521
HP:0000347HP:0000347Micrognathia0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM113614409606521
HP:0000347HP:0000347Micrognathia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM18320662608744
HP:0000347HP:0000347Micrognathia0SLC26A2 CL E G H183693298ORPHA154910994606718
HP:0000347HP:0000347Micrognathia0SLC26A2 CL E G H1836256050Atelosteogenesis type 2256050C1850554OMIM154910994606718
HP:0000347HP:0000347Micrognathia0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM149313444606145
HP:0000347HP:0000347Micrognathia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA179811111300040
HP:0000347HP:0000347Micrognathia0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0000347HP:0000347Micrognathia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13582468606062
HP:0000347HP:0000347Micrognathia0SNRPB CL E G H66281393ORPHA17411153182282
HP:0000347HP:0000347Micrognathia0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM17411153182282
HP:0000347HP:0000347Micrognathia0SOS1 CL E G H6654648ORPHA1122411187182530
HP:0000347HP:0000347Micrognathia0SOS2 CL E G H6655648ORPHA191611188601247
HP:0000347HP:0000347Micrognathia0SOX9 CL E G H6662718Anophthalmia microcephaly hypogonadismORPHA128011204608160
HP:0000347HP:0000347Micrognathia0SOX9 CL E G H6662140Atresia of small intestineORPHA128011204608160
HP:0000347HP:0000347Micrognathia0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM128011204608160
HP:0000347HP:0000347Micrognathia0SP7 CL E G H121340613849Osteogenesis imperfecta type 12613849C3151433OMIM19317321606633
HP:0000347HP:0000347Micrognathia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM123029022614140
HP:0000347HP:0000347Micrognathia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0000347HP:0000347Micrognathia0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM160320249609291
HP:0000347HP:0000347Micrognathia0SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM15525356616086
HP:0000347HP:0000347Micrognathia0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM128411326300090
HP:0000347HP:0000347Micrognathia0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM118828423615521
HP:0000347HP:0000347Micrognathia0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM126230650610745
HP:0000347HP:0000347Micrognathia0SUMO1 CL E G H734199798ORPHA15112502601912
HP:0000347HP:0000347Micrognathia0SUZ12 CL E G H235123447ORPHA110317101606245
HP:0000347HP:0000347Micrognathia0TAB2 CL E G H23118228410ORPHA117517075605101
HP:0000347HP:0000347Micrognathia0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM122326887612758
HP:0000347HP:0000347Micrognathia0TBC1D20 CL E G H1286372510ORPHA115416133611663
HP:0000347HP:0000347Micrognathia0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0000347HP:0000347Micrognathia0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM135711582604934
HP:0000347HP:0000347Micrognathia0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA135711582604934
HP:0000347HP:0000347Micrognathia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116611586605842
HP:0000347HP:0000347Micrognathia0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM197211592602054
HP:0000347HP:0000347Micrognathia0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM111811594604127
HP:0000347HP:0000347Micrognathia0TBX4 CL E G H9496147891Ischiopatellar dysplasia147891C1840061OMIM123811603601719
HP:0000347HP:0000347Micrognathia0TCOF1 CL E G H6949861ORPHA152311654606847
HP:0000347HP:0000347Micrognathia0TCTN2 CL E G H79867564ORPHA145325774613846
HP:0000347HP:0000347Micrognathia0TCTN3 CL E G H261232754ORPHA132724519613847
HP:0000347HP:0000347Micrognathia0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA132724519613847
HP:0000347HP:0000347Micrognathia0TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM132724519613847
HP:0000347HP:0000347Micrognathia0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM18518345611357
HP:0000347HP:0000347Micrognathia0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM115811742107580
HP:0000347HP:0000347Micrognathia0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM112220324616146
HP:0000347HP:0000347Micrognathia0TGDS CL E G H234831388Cleft palate colobomata radial synostosis deafnessORPHA112220324616146
HP:0000347HP:0000347Micrognathia0TGFA CL E G H703999798ORPHA11811765190170
HP:0000347HP:0000347Micrognathia0TGFBR1 CL E G H704660030ORPHA177811772190181
HP:0000347HP:0000347Micrognathia0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM177811772190181
HP:0000347HP:0000347Micrognathia0TGFBR2 CL E G H704860030ORPHA184211773190182
HP:0000347HP:0000347Micrognathia0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM184211773190182
HP:0000347HP:0000347Micrognathia0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM16518188614123
HP:0000347HP:0000347Micrognathia0TMEM107 CL E G H84314564ORPHA120728128616183
HP:0000347HP:0000347Micrognathia0TMEM216 CL E G H51259564ORPHA119525018613277
HP:0000347HP:0000347Micrognathia0TMEM216 CL E G H512592754ORPHA119525018613277
HP:0000347HP:0000347Micrognathia0TMEM231 CL E G H79583564ORPHA134137234614949
HP:0000347HP:0000347Micrognathia0TMEM67 CL E G H91147564ORPHA167428396609884
HP:0000347HP:0000347Micrognathia0TNNI2 CL E G H71361147ORPHA111311946191043
HP:0000347HP:0000347Micrognathia0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000347HP:0000347Micrognathia0TNNT3 CL E G H71401147ORPHA119611950600692
HP:0000347HP:0000347Micrognathia0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000347HP:0000347Micrognathia0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM119815954613931
HP:0000347HP:0000347Micrognathia0TP63 CL E G H86261071ORPHA150815979603273
HP:0000347HP:0000347Micrognathia0TPM2 CL E G H71691147ORPHA128012011190990
HP:0000347HP:0000347Micrognathia0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000347HP:0000347Micrognathia0TRAIP CL E G H10293808Baker Vinters syndromeORPHA14730764605958
HP:0000347HP:0000347Micrognathia0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM193012303601893
HP:0000347HP:0000347Micrognathia0TRIP11 CL E G H932193299ORPHA160812305604505
HP:0000347HP:0000347Micrognathia0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA121512307604507
HP:0000347HP:0000347Micrognathia0TRPS1 CL E G H722777258ORPHA140012340604386
HP:0000347HP:0000347Micrognathia0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM140012340604386
HP:0000347HP:0000347Micrognathia0TSR2 CL E G H90121300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis300946C4225422OMIM117025455300945
HP:0000347HP:0000347Micrognathia0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM117612428601622
HP:0000347HP:0000347Micrognathia0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM120430551611595
HP:0000347HP:0000347Micrognathia0UBA1 CL E G H73171145ORPHA153112469314370
HP:0000347HP:0000347Micrognathia0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0000347HP:0000347Micrognathia0UBE3B CL E G H899102707ORPHA111013478608047
HP:0000347HP:0000347Micrognathia0UPF3B CL E G H65109776ORPHA131420439300298
HP:0000347HP:0000347Micrognathia0VAC14 CL E G H556973472MeningococcemiaORPHA122025507604632
HP:0000347HP:0000347Micrognathia0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM112651192150
HP:0000347HP:0000347Micrognathia0VPS13B CL E G H157680193ORPHA137882183607817
HP:0000347HP:0000347Micrognathia0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM137882183607817
HP:0000347HP:0000347Micrognathia0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM128812712608552
HP:0000347HP:0000347Micrognathia0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM152728984610657
HP:0000347HP:0000347Micrognathia0WDPCP CL E G H51057564ORPHA142828027613580
HP:0000347HP:0000347Micrognathia0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM112521208617424
HP:0000347HP:0000347Micrognathia0WDR34 CL E G H8989193271ORPHA128296613363
HP:0000347HP:0000347Micrognathia0WDR35 CL E G H5753993271ORPHA152329250613602
HP:0000347HP:0000347Micrognathia0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM152329250613602
HP:0000347HP:0000347Micrognathia0WDR60 CL E G H5511293271ORPHA121862615462
HP:0000347HP:0000347Micrognathia0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113825928616144
HP:0000347HP:0000347Micrognathia0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000347HP:0000347Micrognathia0WNT10A CL E G H8032699798ORPHA135913829606268
HP:0000347HP:0000347Micrognathia0WNT10B CL E G H748099798ORPHA14912775601906
HP:0000347HP:0000347Micrognathia0WNT3 CL E G H74733301Lowry syndromeORPHA16912782165330
HP:0000347HP:0000347Micrognathia0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM16912782165330
HP:0000347HP:0000347Micrognathia0WNT5A CL E G H74743107ORPHA113612784164975
HP:0000347HP:0000347Micrognathia0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM113612784164975
HP:0000347HP:0000347Micrognathia0WNT7A CL E G H74762879ORPHA18312786601570
HP:0000347HP:0000347Micrognathia0WT1 CL E G H7490893ORPHA1114612796607102
HP:0000347HP:0000347Micrognathia0XRCC4 CL E G H751899812ORPHA18612831194363
HP:0000347HP:0000347Micrognathia0XRCC4 CL E G H7518436182ORPHA18612831194363
HP:0000347HP:0000347Micrognathia0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA115624249610957
HP:0000347HP:0000347Micrognathia0ZBTB18 CL E G H1047236367ORPHA120213030608433
HP:0000347HP:0000347Micrognathia0ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM120213030608433
HP:0000347HP:0000347Micrognathia0ZBTB24 CL E G H98412268ORPHA124621143614064
HP:0000347HP:0000347Micrognathia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0000347HP:0000347Micrognathia0ZDHHC9 CL E G H51114776ORPHA133118475300646
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H102691662ORPHA117612877606480
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H1026990154ORPHA117612877606480
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM117612877606480
HP:0000347HP:0000347Micrognathia0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM117612877606480
HP:0000347HP:0000347Micrognathia0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0000347HP:0000347Micrognathia0ZNF341 CL E G H84905618282618282618282OMIM1313159920
HP:0000347HP:0003778Short mandibular rami1A2ML1 CL E G H144568648ORPHA1114623336610627
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1A2ML1 CL E G H144568648ORPHA1114623336610627
HP:0000347HP:0000308Microretrognathia1A2ML1 CL E G H144568648ORPHA1114623336610627
HP:0000347HP:0003778Short mandibular rami1ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA1126660601439
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA1126660601439
HP:0000347HP:0000308Microretrognathia1ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA1126660601439
HP:0000347HP:0003778Short mandibular rami1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1406132102630
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1406132102630
HP:0000347HP:0000308Microretrognathia1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1406132102630
HP:0000347HP:0003778Short mandibular rami1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1412144102560
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1412144102560
HP:0000347HP:0000308Microretrognathia1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1412144102560
HP:0000347HP:0003778Short mandibular rami1ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000347HP:0000308Microretrognathia1ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000347HP:0003778Short mandibular rami1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0000347HP:0000308Microretrognathia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11221218604539
HP:0000347HP:0003778Short mandibular rami1ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM19613841612243
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM19613841612243
HP:0000347HP:0000308Microretrognathia1ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM19613841612243
HP:0000347HP:0003778Short mandibular rami1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000347HP:0000308Microretrognathia1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000347HP:0003778Short mandibular rami1AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM145525230615790
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM145525230615790
HP:0000347HP:0000308Microretrognathia1AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM145525230615790
HP:0000347HP:0003778Short mandibular rami1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000347HP:0000308Microretrognathia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000347HP:0003778Short mandibular rami1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0000347HP:0000308Microretrognathia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0000347HP:0003778Short mandibular rami1ALX4 CL E G H6052952022ORPHA1251450605420
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ALX4 CL E G H6052952022ORPHA1251450605420
HP:0000347HP:0000308Microretrognathia1ALX4 CL E G H6052952022ORPHA1251450605420
HP:0000347HP:0003778Short mandibular rami1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0000347HP:0000308Microretrognathia1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0000347HP:0003778Short mandibular rami1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1197467300195
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1197467300195
HP:0000347HP:0000308Microretrognathia1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1197467300195
HP:0000347HP:0003778Short mandibular rami1ANK1 CL E G H286251066ORPHA1642492612641
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ANK1 CL E G H286251066ORPHA1642492612641
HP:0000347HP:0000308Microretrognathia1ANK1 CL E G H286251066ORPHA1642492612641
HP:0000347HP:0003778Short mandibular rami1ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM119129101616062
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM119129101616062
HP:0000347HP:0000308Microretrognathia1ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM119129101616062
HP:0000347HP:0003778Short mandibular rami1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1151521316611192
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1151521316611192
HP:0000347HP:0000308Microretrognathia1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1151521316611192
HP:0000347HP:0003778Short mandibular rami1ANTXR1 CL E G H841682067ORPHA19021014606410
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ANTXR1 CL E G H841682067ORPHA19021014606410
HP:0000347HP:0000308Microretrognathia1ANTXR1 CL E G H841682067ORPHA19021014606410
HP:0000347HP:0003778Short mandibular rami1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM19021014606410
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM19021014606410
HP:0000347HP:0000308Microretrognathia1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM19021014606410
HP:0000347HP:0003778Short mandibular rami1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000347HP:0000308Microretrognathia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000347HP:0003778Short mandibular rami1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0000347HP:0000308Microretrognathia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0000347HP:0003778Short mandibular rami1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0000347HP:0000308Microretrognathia1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0000347HP:0003778Short mandibular rami1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0000347HP:0000308Microretrognathia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0000347HP:0003778Short mandibular rami1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0000347HP:0000308Microretrognathia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0000347HP:0003778Short mandibular rami1ATP7A CL E G H538565ORPHA11283869300011
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ATP7A CL E G H538565ORPHA11283869300011
HP:0000347HP:0000308Microretrognathia1ATP7A CL E G H538565ORPHA11283869300011
HP:0000347HP:0003778Short mandibular rami1ATR CL E G H545808Baker Vinters syndromeORPHA12273882601215
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ATR CL E G H545808Baker Vinters syndromeORPHA12273882601215
HP:0000347HP:0000308Microretrognathia1ATR CL E G H545808Baker Vinters syndromeORPHA12273882601215
HP:0000347HP:0003778Short mandibular rami1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM12273882601215
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM12273882601215
HP:0000347HP:0000308Microretrognathia1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM12273882601215
HP:0000347HP:0003778Short mandibular rami1ATRIP CL E G H84126808Baker Vinters syndromeORPHA137433499606605
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ATRIP CL E G H84126808Baker Vinters syndromeORPHA137433499606605
HP:0000347HP:0000308Microretrognathia1ATRIP CL E G H84126808Baker Vinters syndromeORPHA137433499606605
HP:0000347HP:0003778Short mandibular rami1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11544886300032
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11544886300032
HP:0000347HP:0000308Microretrognathia1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11544886300032
HP:0000347HP:0003778Short mandibular rami1AXIN2 CL E G H831399798ORPHA12777904604025
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1AXIN2 CL E G H831399798ORPHA12777904604025
HP:0000347HP:0000308Microretrognathia1AXIN2 CL E G H831399798ORPHA12777904604025
HP:0000347HP:0003778Short mandibular rami1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000347HP:0000308Microretrognathia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000347HP:0003778Short mandibular rami1B3GLCT CL E G H145173709ORPHA126620207610308
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1B3GLCT CL E G H145173709ORPHA126620207610308
HP:0000347HP:0000308Microretrognathia1B3GLCT CL E G H145173709ORPHA126620207610308
HP:0000347HP:0003778Short mandibular rami1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM126620207610308
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM126620207610308
HP:0000347HP:0000308Microretrognathia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM126620207610308
HP:0000347HP:0003778Short mandibular rami1B9D1 CL E G H27077564ORPHA125324123614144
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1B9D1 CL E G H27077564ORPHA125324123614144
HP:0000347HP:0000308Microretrognathia1B9D1 CL E G H27077564ORPHA125324123614144
HP:0000347HP:0003778Short mandibular rami1B9D2 CL E G H80776564ORPHA15628636611951
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1B9D2 CL E G H80776564ORPHA15628636611951
HP:0000347HP:0000308Microretrognathia1B9D2 CL E G H80776564ORPHA15628636611951
HP:0000347HP:0003778Short mandibular rami1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000347HP:0000308Microretrognathia1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000347HP:0003778Short mandibular rami1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0000347HP:0000308Microretrognathia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0000347HP:0003778Short mandibular rami1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0000347HP:0000308Microretrognathia1BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0000347HP:0003778Short mandibular rami1BDNF CL E G H627893ORPHA1571033113505
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1BDNF CL E G H627893ORPHA1571033113505
HP:0000347HP:0000308Microretrognathia1BDNF CL E G H627893ORPHA1571033113505
HP:0000347HP:0003778Short mandibular rami1BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0000347HP:0000308Microretrognathia1BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0000347HP:0003778Short mandibular rami1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0000347HP:0000308Microretrognathia1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM124424154608699
HP:0000347HP:0003778Short mandibular rami1BPTF CL E G H2186529962ORPHA11913581601819
HP:0000347HP:0410219Hypoplasia of mandible relative to maxilla1BPTF CL E G H2186