Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal midface morphology (HP:0000309)help
..Starting node
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Midface retrusion (HP:0011800)help
Term ID: 11800
Name: Midface retrusion
Synonym: Decreased projection of midface; Decreased size of midface; Flat midface; Hypoplasia of midface; Hypotrophic midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Small midface; Underdevelopment of midface
Definition: Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Comments:
Reference: HP:0011800
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cheek morphology (HP:0004426) help
..expandHyperplasia of midface (HP:0012371) help
..expandobsolete Abnormal malar bone morphology (HP:0012369) help
..expandobsolete Abnormality of the shape of the midface (HP:0430026) 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:0011800HP:0011800Midface retrusion0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecansHP:0040284 - Very rare34
HP:0011800HP:0011800Midface retrusion0ACAN CL E G H176319ORPHA:435804Short stature-advanced bone age-early-onset osteoarthritis syndromeHP:0040282 - Frequent34
HP:0011800HP:0011800Midface retrusion0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type.34
HP:0011800HP:0011800Midface retrusion0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0011800HP:0011800Midface retrusion0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040284 - Very rare16
HP:0011800HP:0011800Midface retrusion0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0011800HP:0011800Midface retrusion0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0011800HP:0011800Midface retrusion0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0011800HP:0011800Midface retrusion0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040283 - Occasional60
HP:0011800HP:0011800Midface retrusion0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0011800HP:0011800Midface retrusion0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0011800HP:0011800Midface retrusion0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0011800HP:0011800Midface retrusion0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.2
HP:0011800HP:0011800Midface retrusion0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0011800HP:0011800Midface retrusion0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0011800HP:0011800Midface retrusion0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0011800HP:0011800Midface retrusion0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0011800HP:0011800Midface retrusion0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0011800HP:0011800Midface retrusion0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0011800HP:0011800Midface retrusion0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0011800HP:0011800Midface retrusion0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0011800HP:0011800Midface retrusion0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent38
HP:0011800HP:0011800Midface retrusion0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0011800HP:0011800Midface retrusion0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0011800HP:0011800Midface retrusion0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0011800HP:0011800Midface retrusion0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0011800HP:0011800Midface retrusion0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0011800HP:0011800Midface retrusion0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0011800HP:0011800Midface retrusion0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0011800HP:0011800Midface retrusion0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0011800HP:0011800Midface retrusion0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 6.38
HP:0011800HP:0011800Midface retrusion0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0011800HP:0011800Midface retrusion0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0011800HP:0011800Midface retrusion0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0011800HP:0011800Midface retrusion0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0011800HP:0011800Midface retrusion0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0011800HP:0011800Midface retrusion0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0011800HP:0011800Midface retrusion0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0011800HP:0011800Midface retrusion0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0011800HP:0011800Midface retrusion0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0011800HP:0011800Midface retrusion0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0011800HP:0011800Midface retrusion0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0011800HP:0011800Midface retrusion0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0011800HP:0011800Midface retrusion0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0011800HP:0011800Midface retrusion0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011800HP:0011800Midface retrusion0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0011800HP:0011800Midface retrusion0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0011800HP:0011800Midface retrusion0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040282 - Frequent2
HP:0011800HP:0011800Midface retrusion0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0011800HP:0011800Midface retrusion0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0011800HP:0011800Midface retrusion0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0011800HP:0011800Midface retrusion0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0011800HP:0011800Midface retrusion0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0011800HP:0011800Midface retrusion0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0011800HP:0011800Midface retrusion0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0011800HP:0011800Midface retrusion0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0011800HP:0011800Midface retrusion0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0011800HP:0011800Midface retrusion0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0011800HP:0011800Midface retrusion0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0011800HP:0011800Midface retrusion0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent222
HP:0011800HP:0011800Midface retrusion0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0011800HP:0011800Midface retrusion0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III.222
HP:0011800HP:0011800Midface retrusion0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040283 - Occasional177
HP:0011800HP:0011800Midface retrusion0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0011800HP:0011800Midface retrusion0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0011800HP:0011800Midface retrusion0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040282 - Frequent284
HP:0011800HP:0011800Midface retrusion0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0011800HP:0011800Midface retrusion0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0011800HP:0011800Midface retrusion0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0011800HP:0011800Midface retrusion0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0011800HP:0011800Midface retrusion0COL2A1 CL E G H12802200OMIM:609508STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR284
HP:0011800HP:0011800Midface retrusion0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0011800HP:0011800Midface retrusion0COL9A3 CL E G H12992219OMIM:620022137
HP:0011800HP:0011800Midface retrusion0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent6
HP:0011800HP:0011800Midface retrusion0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0011800HP:0011800Midface retrusion0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0011800HP:0011800Midface retrusion0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0011800HP:0011800Midface retrusion0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040281 - Very frequent39
HP:0011800HP:0011800Midface retrusion0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0011800HP:0011800Midface retrusion0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0011800HP:0011800Midface retrusion0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011800HP:0011800Midface retrusion0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0011800HP:0011800Midface retrusion0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0011800HP:0011800Midface retrusion0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0011800HP:0011800Midface retrusion0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0011800HP:0011800Midface retrusion0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0011800HP:0011800Midface retrusion0DPH5 CL E G H5161124270OMIM:620070
HP:0011800HP:0011800Midface retrusion0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0011800HP:0011800Midface retrusion0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent14
HP:0011800HP:0011800Midface retrusion0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0011800HP:0011800Midface retrusion0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0011800HP:0011800Midface retrusion0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent5
HP:0011800HP:0011800Midface retrusion0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0011800HP:0011800Midface retrusion0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0011800HP:0011800Midface retrusion0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0011800HP:0011800Midface retrusion0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0011800HP:0011800Midface retrusion0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome.223
HP:0011800HP:0011800Midface retrusion0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0011800HP:0011800Midface retrusion0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0011800HP:0011800Midface retrusion0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome.172
HP:0011800HP:0011800Midface retrusion0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0011800HP:0011800Midface retrusion0ERF CL E G H20773444OMIM:600775Craniosynostosis 4.12
HP:0011800HP:0011800Midface retrusion0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0011800HP:0011800Midface retrusion0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0011800HP:0011800Midface retrusion0FAM50A CL E G H913018786OMIM:300261Mental retardation syndrome, X-linked, Armfield typeHP:0040283 - Occasional
HP:0011800HP:0011800Midface retrusion0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0011800HP:0011800Midface retrusion0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0011800HP:0011800Midface retrusion0FGFR1 CL E G H22603688OMIM:123150Jackson-Weiss syndrome.172
HP:0011800HP:0011800Midface retrusion0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0011800HP:0011800Midface retrusion0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent172
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray typeHP:0040282 - Frequent175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040281 - Very frequent175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689OMIM:123150Jackson-Weiss syndrome.175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent175
HP:0011800HP:0011800Midface retrusion0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0011800HP:0011800Midface retrusion0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0011800HP:0011800Midface retrusion0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0011800HP:0011800Midface retrusion0FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans.145
HP:0011800HP:0011800Midface retrusion0FGFR3 CL E G H22613690ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional145
HP:0011800HP:0011800Midface retrusion0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0011800HP:0011800Midface retrusion0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0011800HP:0011800Midface retrusion0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0011800HP:0011800Midface retrusion0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0011800HP:0011800Midface retrusion0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0011800HP:0011800Midface retrusion0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0011800HP:0011800Midface retrusion0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0011800HP:0011800Midface retrusion0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0011800HP:0011800Midface retrusion0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040282 - Frequent63
HP:0011800HP:0011800Midface retrusion0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0011800HP:0011800Midface retrusion0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0011800HP:0011800Midface retrusion0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0011800HP:0011800Midface retrusion0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011800HP:0011800Midface retrusion0GHR CL E G H26904263ORPHA:314802Short stature due to partial GHR deficiencyHP:0040283 - Occasional98
HP:0011800HP:0011800Midface retrusion0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndromeHP:0040283 - Occasional173
HP:0011800HP:0011800Midface retrusion0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0011800HP:0011800Midface retrusion0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0011800HP:0011800Midface retrusion0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0011800HP:0011800Midface retrusion0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0011800HP:0011800Midface retrusion0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional4
HP:0011800HP:0011800Midface retrusion0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0011800HP:0011800Midface retrusion0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011800HP:0011800Midface retrusion0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011800HP:0011800Midface retrusion0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent11
HP:0011800HP:0011800Midface retrusion0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040281 - Very frequent33
HP:0011800HP:0011800Midface retrusion0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0011800HP:0011800Midface retrusion0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0011800HP:0011800Midface retrusion0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0011800HP:0011800Midface retrusion0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0011800HP:0011800Midface retrusion0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3HP:0040283 - Occasional2
HP:0011800HP:0011800Midface retrusion0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0011800HP:0011800Midface retrusion0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0011800HP:0011800Midface retrusion0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0011800HP:0011800Midface retrusion0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0011800HP:0011800Midface retrusion0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0011800HP:0011800Midface retrusion0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0011800HP:0011800Midface retrusion0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional9
HP:0011800HP:0011800Midface retrusion0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0011800HP:0011800Midface retrusion0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0011800HP:0011800Midface retrusion0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0011800HP:0011800Midface retrusion0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0011800HP:0011800Midface retrusion0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0011800HP:0011800Midface retrusion0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0011800HP:0011800Midface retrusion0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0011800HP:0011800Midface retrusion0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0011800HP:0011800Midface retrusion0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0011800HP:0011800Midface retrusion0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0011800HP:0011800Midface retrusion0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0011800HP:0011800Midface retrusion0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0011800HP:0011800Midface retrusion0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040281 - Very frequent14
HP:0011800HP:0011800Midface retrusion0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0011800HP:0011800Midface retrusion0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0011800HP:0011800Midface retrusion0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0011800HP:0011800Midface retrusion0LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040282 - Frequent70
HP:0011800HP:0011800Midface retrusion0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0011800HP:0011800Midface retrusion0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0011800HP:0011800Midface retrusion0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0011800HP:0011800Midface retrusion0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0011800HP:0011800Midface retrusion0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0011800HP:0011800Midface retrusion0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0011800HP:0011800Midface retrusion0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27.25
HP:0011800HP:0011800Midface retrusion0LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome.645
HP:0011800HP:0011800Midface retrusion0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome.289
HP:0011800HP:0011800Midface retrusion0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0011800HP:0011800Midface retrusion0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0011800HP:0011800Midface retrusion0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0011800HP:0011800Midface retrusion0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0011800HP:0011800Midface retrusion0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0011800HP:0011800Midface retrusion0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0011800HP:0011800Midface retrusion0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0011800HP:0011800Midface retrusion0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0011800HP:0011800Midface retrusion0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0011800HP:0011800Midface retrusion0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0011800HP:0011800Midface retrusion0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0011800HP:0011800Midface retrusion0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011800HP:0011800Midface retrusion0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040281 - Very frequent33
HP:0011800HP:0011800Midface retrusion0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0011800HP:0011800Midface retrusion0MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0011800HP:0011800Midface retrusion0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome.1
HP:0011800HP:0011800Midface retrusion0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0011800HP:0011800Midface retrusion0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0011800HP:0011800Midface retrusion0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0011800HP:0011800Midface retrusion0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4.
HP:0011800HP:0011800Midface retrusion0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0011800HP:0011800Midface retrusion0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent3
HP:0011800HP:0011800Midface retrusion0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0011800HP:0011800Midface retrusion0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011800HP:0011800Midface retrusion0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome.1952
HP:0011800HP:0011800Midface retrusion0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0011800HP:0011800Midface retrusion0NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0011800HP:0011800Midface retrusion0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0011800HP:0011800Midface retrusion0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0011800HP:0011800Midface retrusion0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0011800HP:0011800Midface retrusion0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0011800HP:0011800Midface retrusion0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0011800HP:0011800Midface retrusion0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0011800HP:0011800Midface retrusion0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0011800HP:0011800Midface retrusion0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0011800HP:0011800Midface retrusion0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011800HP:0011800Midface retrusion0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent2
HP:0011800HP:0011800Midface retrusion0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 1.2
HP:0011800HP:0011800Midface retrusion0PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040283 - Occasional
HP:0011800HP:0011800Midface retrusion0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0011800HP:0011800Midface retrusion0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0011800HP:0011800Midface retrusion0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0011800HP:0011800Midface retrusion0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0011800HP:0011800Midface retrusion0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0011800HP:0011800Midface retrusion0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0011800HP:0011800Midface retrusion0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0011800HP:0011800Midface retrusion0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0011800HP:0011800Midface retrusion0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040282 - Frequent51
HP:0011800HP:0011800Midface retrusion0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2HP:0040283 - Occasional106
HP:0011800HP:0011800Midface retrusion0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0011800HP:0011800Midface retrusion0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0011800HP:0011800Midface retrusion0POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type.8
HP:0011800HP:0011800Midface retrusion0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent38
HP:0011800HP:0011800Midface retrusion0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent31
HP:0011800HP:0011800Midface retrusion0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0011800HP:0011800Midface retrusion0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0011800HP:0011800Midface retrusion0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0011800HP:0011800Midface retrusion0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0011800HP:0011800Midface retrusion0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0011800HP:0011800Midface retrusion0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0011800HP:0011800Midface retrusion0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0011800HP:0011800Midface retrusion0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040283 - Occasional10
HP:0011800HP:0011800Midface retrusion0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0011800HP:0011800Midface retrusion0PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0011800HP:0011800Midface retrusion0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0011800HP:0011800Midface retrusion0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0011800HP:0011800Midface retrusion0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0011800HP:0011800Midface retrusion0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0011800HP:0011800Midface retrusion0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0011800HP:0011800Midface retrusion0PSMC1 CL E G H57009547OMIM:6200711
HP:0011800HP:0011800Midface retrusion0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0011800HP:0011800Midface retrusion0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7.665
HP:0011800HP:0011800Midface retrusion0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0011800HP:0011800Midface retrusion0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0011800HP:0011800Midface retrusion0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0011800HP:0011800Midface retrusion0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0011800HP:0011800Midface retrusion0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 1.31
HP:0011800HP:0011800Midface retrusion0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent90
HP:0011800HP:0011800Midface retrusion0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent135
HP:0011800HP:0011800Midface retrusion0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0011800HP:0011800Midface retrusion0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0011800HP:0011800Midface retrusion0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0011800HP:0011800Midface retrusion0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome.150
HP:0011800HP:0011800Midface retrusion0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0011800HP:0011800Midface retrusion0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0011800HP:0011800Midface retrusion0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W.
HP:0011800HP:0011800Midface retrusion0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0011800HP:0011800Midface retrusion0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0011800HP:0011800Midface retrusion0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0011800HP:0011800Midface retrusion0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0011800HP:0011800Midface retrusion0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0011800HP:0011800Midface retrusion0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis.1
HP:0011800HP:0011800Midface retrusion0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0011800HP:0011800Midface retrusion0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0011800HP:0011800Midface retrusion0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0011800HP:0011800Midface retrusion0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0011800HP:0011800Midface retrusion0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011800HP:0011800Midface retrusion0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0011800HP:0011800Midface retrusion0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0011800HP:0011800Midface retrusion0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent5
HP:0011800HP:0011800Midface retrusion0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0011800HP:0011800Midface retrusion0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0011800HP:0011800Midface retrusion0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0011800HP:0011800Midface retrusion0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040281 - Very frequent143
HP:0011800HP:0011800Midface retrusion0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0011800HP:0011800Midface retrusion0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0011800HP:0011800Midface retrusion0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0011800HP:0011800Midface retrusion0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0011800HP:0011800Midface retrusion0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0011800HP:0011800Midface retrusion0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0011800HP:0011800Midface retrusion0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0011800HP:0011800Midface retrusion0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II.166
HP:0011800HP:0011800Midface retrusion0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0011800HP:0011800Midface retrusion0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0011800HP:0011800Midface retrusion0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0011800HP:0011800Midface retrusion0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0011800HP:0011800Midface retrusion0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0011800HP:0011800Midface retrusion0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0011800HP:0011800Midface retrusion0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0011800HP:0011800Midface retrusion0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0011800HP:0011800Midface retrusion0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0011800HP:0011800Midface retrusion0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0011800HP:0011800Midface retrusion0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0011800HP:0011800Midface retrusion0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0011800HP:0011800Midface retrusion0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0011800HP:0011800Midface retrusion0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0011800HP:0011800Midface retrusion0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0011800HP:0011800Midface retrusion0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0011800HP:0011800Midface retrusion0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0011800HP:0011800Midface retrusion0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0011800HP:0011800Midface retrusion0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0011800HP:0011800Midface retrusion0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040282 - Frequent32
HP:0011800HP:0011800Midface retrusion0TCF12 CL E G H693811623ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional28
HP:0011800HP:0011800Midface retrusion0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0011800HP:0011800Midface retrusion0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent140
HP:0011800HP:0011800Midface retrusion0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0011800HP:0011800Midface retrusion0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0011800HP:0011800Midface retrusion0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0011800HP:0011800Midface retrusion0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIKHP:0040283 - Occasional24
HP:0011800HP:0011800Midface retrusion0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0011800HP:0011800Midface retrusion0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0011800HP:0011800Midface retrusion0TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4HP:0040283 - Occasional102
HP:0011800HP:0011800Midface retrusion0TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.1
HP:0011800HP:0011800Midface retrusion0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011800HP:0011800Midface retrusion0TWIST1 CL E G H729112428ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional18
HP:0011800HP:0011800Midface retrusion0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0011800HP:0011800Midface retrusion0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0011800HP:0011800Midface retrusion0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0011800HP:0011800Midface retrusion0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0011800HP:0011800Midface retrusion0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0011800HP:0011800Midface retrusion0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0011800HP:0011800Midface retrusion0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011800HP:0011800Midface retrusion0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0011800HP:0011800Midface retrusion0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0011800HP:0011800Midface retrusion0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent98
HP:0011800HP:0011800Midface retrusion0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0011800HP:0011800Midface retrusion0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0011800HP:0011800Midface retrusion0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0011800HP:0011800Midface retrusion0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0011800HP:0011800Midface retrusion0ZIC1 CL E G H754512872ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional5
HP:0011800HP:0011800Midface retrusion0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011800HP:0011800Midface retrusion0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0011800HP:0011800Midface retrusion0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1


Genes (273) :ACAN ACP5 ACTB AGL AIFM1 ALG12 AMMECR1 AMPD2 ANKRD17 ANTXR1 ATP6V0A2 ATRX B3GALT6 B3GAT3 B4GALT7 BANF1 BCL11A BICD2 BICRA BMP2 BMP4 BPTF BRF1 BUB1B CAMK2B CANT1 CASZ1 CBL CCDC47 CCDC8 CDC42 CDH11 CDK19 CDKN1C CEP120 CHD1 CHD3 CHST3 CILK1 CLCN3 CLCN4 COG1 COL11A1 COL11A2 COL18A1 COL1A1 COL2A1 COL9A2 COL9A3 COX7B CPLX1 CSGALNACT1 CTCF CTSK CUL7 DCHS1 DDB1 DDR2 DEAF1 DHX37 DLX4 DPH5 DSE DVL1 DVL3 EBP EFTUD2 EHMT1 ELN EPB41L1 ERF FAM20C FAM50A FAT4 FBN1 FGFR1 FGFR2 FGFR3 FIBP FLII FLNA FLNB FOXC1 FOXG1 FZD2 GABRD GDF11 GHR GLI2 GMNN GPC4 GRIN1 H19 H19-ICR H3-3A H3-3B HCCS HDAC4 HECW2 HESX1 HNRNPH2 HOXB1 HSPA9 HSPG2 IARS2 IFT52 IFT81 IGF2 IL11RA IQSEC2 IREB2 ITCH KAT6A KCNAB2 KCNQ1 KCNQ1OT1 KIF15 KIF1A KIF22 KMT2C KRAS LBR LEMD2 LHX3 LHX4 LIFR LINS1 LMNA LRP2 LRPPRC LRRC32 LTBP4 LUZP1 LZTR1 MAF MAN2B1 MBD5 MECP2 MED13L MEGF8 MESD MGP MIR140 MLXIPL MMP23B MN1 MRAS MRPS14 MTOR MYSM1 NDUFB11 NECTIN1 NEPRO NF1 NFIX NGLY1 NKAP NRAS NSMCE3 NXN OBSL1 OSGEP OTUD5 P4HB PAK2 PDE4D PDGFRB PDPN PEX1 PIGV PIK3R1 PITX2 PKD2 PLP1 POGZ POLR1A POLR1B POLR1C POLR1D POMGNT1 POP1 POR POU1F1 PPP2R5D PRDM16 PRKACA PRKAR1A PRKCZ PROP1 PRR12 PSMC1 PSMD12 PTCH1 PTH1R PTPN11 PTRH2 PYCR1 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAF1 RAI1 RASA2 RERE RFWD3 RIT1 RNF13 ROR2 RPS28 RRAS RRAS2 RUNX2 RYR1 SATB1 SATB2 SEC23A SEC24D SERPINH1 SETBP1 SF3B4 SH2B1 SHH SIX3 SKI SLC25A24 SLC26A2 SLC35D1 SLC6A8 SLC9A7 SMAD2 SMAD4 SMC1A SMCHD1 SON SOS1 SOS2 SOST SOX11 SOX9 SP7 SPEN SPRED2 STAC3 TBL1XR1 TBX1 TCF12 TCF20 TCOF1 TGFB3 TLK2 TMCO1 TMEM165 TONSL TRIO TSEN54 TSR2 TUBGCP2 TWIST1 UBE2A UBE4B USB1 WAC WASF1 WDR35 WDR73 WNT5A YME1L1 ZBTB20 ZIC1 ZMIZ1 ZNF407 ZNHIT3

Diseases (297) :OMIM:165800 ORPHA:435804 OMIM:612813 ORPHA:171866 ORPHA:1855 OMIM:607944 OMIM:243310 OMIM:232400 ORPHA:83629 OMIM:300232 ORPHA:79324 OMIM:607143 OMIM:300990 OMIM:615809 OMIM:619504 ORPHA:2067 OMIM:219200 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:609465 ORPHA:536467 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:614008 OMIM:617101 OMIM:618291 OMIM:619325 OMIM:617877 OMIM:607932 ORPHA:529962 ORPHA:444072 OMIM:257300 OMIM:617799 OMIM:251450 ORPHA:1606 ORPHA:648 OMIM:618268 ORPHA:2616 OMIM:614205 ORPHA:487796 OMIM:616737 OMIM:211380 OMIM:618916 OMIM:130650 OMIM:616300 ORPHA:529965 OMIM:618205 OMIM:612651 OMIM:619512 ORPHA:485350 OMIM:300114 OMIM:611209 ORPHA:440354 OMIM:154780 OMIM:604841 OMIM:614524 ORPHA:1427 OMIM:215150 OMIM:184840 ORPHA:1571 OMIM:267750 OMIM:130060 ORPHA:93296 OMIM:156550 OMIM:151210 OMIM:271700 OMIM:108300 OMIM:609508 OMIM:600204 OMIM:620022 ORPHA:2556 OMIM:617976 OMIM:618870 ORPHA:363611 ORPHA:763 OMIM:601390 OMIM:619426 OMIM:271665 OMIM:618175 ORPHA:819 OMIM:618731 OMIM:616788 OMIM:620070 OMIM:615539 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:401973 OMIM:300960 OMIM:610536 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:194050 OMIM:614257 OMIM:600775 ORPHA:207 OMIM:259775 OMIM:300261 OMIM:615546 ORPHA:2833 OMIM:123150 OMIM:166250 ORPHA:93258 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123790 OMIM:614592 ORPHA:1555 ORPHA:168624 ORPHA:313855 ORPHA:1540 ORPHA:93260 OMIM:100800 OMIM:616482 OMIM:612247 ORPHA:35099 OMIM:602849 OMIM:187600 ORPHA:500095 OMIM:617107 OMIM:304120 ORPHA:1190 OMIM:108720 OMIM:108721 ORPHA:782 OMIM:602482 OMIM:613454 OMIM:619122 ORPHA:314802 OMIM:615849 OMIM:610829 OMIM:616835 OMIM:301026 OMIM:617820 ORPHA:231144 OMIM:619720 OMIM:619721 ORPHA:1001 OMIM:600430 OMIM:617268 ORPHA:226307 OMIM:300986 OMIM:614744 OMIM:616854 OMIM:616007 OMIM:617102 OMIM:617895 OMIM:614188 OMIM:618451 OMIM:613385 ORPHA:228426 OMIM:616268 ORPHA:261323 ORPHA:2836 OMIM:603546 ORPHA:93360 OMIM:617768 ORPHA:1426 OMIM:215140 OMIM:618019 OMIM:619322 OMIM:601559 OMIM:614340 OMIM:176670 OMIM:222448 OMIM:220111 OMIM:619074 OMIM:613177 OMIM:605275 OMIM:601088 OMIM:248500 OMIM:156200 OMIM:300260 ORPHA:369891 OMIM:614976 OMIM:618644 ORPHA:85202 OMIM:245150 OMIM:618618 OMIM:618774 OMIM:618378 OMIM:616638 OMIM:618116 ORPHA:508542 ORPHA:3253 OMIM:618853 OMIM:601321 OMIM:602535 OMIM:614753 OMIM:615273 OMIM:301039 OMIM:617241 ORPHA:1507 OMIM:618529 OMIM:617729 OMIM:301056 ORPHA:2050 OMIM:112240 ORPHA:950 OMIM:614613 ORPHA:280651 OMIM:601812 OMIM:601539 OMIM:239300 OMIM:269880 ORPHA:3163 OMIM:613095 ORPHA:280229 ORPHA:468678 OMIM:616462 ORPHA:861 OMIM:253280 OMIM:617396 OMIM:201750 ORPHA:95699 OMIM:613038 ORPHA:457279 OMIM:619142 OMIM:101800 OMIM:619539 OMIM:620071 OMIM:610828 OMIM:600002 OMIM:616263 OMIM:612940 OMIM:201000 ORPHA:1387 OMIM:618577 OMIM:182290 OMIM:617784 OMIM:618379 ORPHA:544503 OMIM:268310 OMIM:606164 OMIM:119600 ORPHA:1452 OMIM:619542 OMIM:619229 OMIM:612313 OMIM:607812 OMIM:616294 OMIM:613848 OMIM:269150 ORPHA:798 OMIM:154400 ORPHA:261197 OMIM:142945 OMIM:157170 OMIM:612289 ORPHA:56304 OMIM:256050 ORPHA:628 OMIM:269250 OMIM:300352 OMIM:301024 OMIM:619657 OMIM:139210 ORPHA:2588 OMIM:301044 OMIM:603457 OMIM:617140 OMIM:269500 OMIM:615866 OMIM:114290 OMIM:613849 OMIM:255995 OMIM:602342 ORPHA:1727 OMIM:618430 OMIM:615582 OMIM:618050 ORPHA:1394 OMIM:614727 ORPHA:93357 OMIM:271510 OMIM:617061 ORPHA:166063 OMIM:300946 OMIM:618737 OMIM:617746 OMIM:300860 ORPHA:163956 OMIM:604173 OMIM:616708 OMIM:618707 OMIM:613610 OMIM:251300 OMIM:617302 ORPHA:3042 OMIM:259050 OMIM:618659 OMIM:619557
 

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