Human Phenotype Ontology 
Grandparent Node:
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Abnormal mandible morphology (HP:0000277)help
Parent Node:
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Micrognathia (HP:0000347)help
Parent Node:
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Retrognathia (HP:0000278)help
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Microretrognathia (HP:0000308)help
Term ID: 308
Name: Microretrognathia
Synonym: Retromicrognathia; Small retruded chin
Definition: A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Comments:
Reference: HP:0000308
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000308HP:0000308Microretrognathia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0000308HP:0000308Microretrognathia0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0000308HP:0000308Microretrognathia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000308HP:0000308Microretrognathia0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000308HP:0000308Microretrognathia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0000308HP:0000308Microretrognathia0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0000308HP:0000308Microretrognathia0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000308HP:0000308Microretrognathia0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000308HP:0000308Microretrognathia0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0000308HP:0000308Microretrognathia0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000308HP:0000308Microretrognathia0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000308HP:0000308Microretrognathia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0000308HP:0000308Microretrognathia0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.HP:0003593 - Infantile onset27
HP:0000308HP:0000308Microretrognathia0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0000308HP:0000308Microretrognathia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0000308HP:0000308Microretrognathia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0000308HP:0000308Microretrognathia0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0000308HP:0000308Microretrognathia0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0000308HP:0000308Microretrognathia0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0000308HP:0000308Microretrognathia0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000308HP:0000308Microretrognathia0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0000308HP:0000308Microretrognathia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000308HP:0000308Microretrognathia0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0000308HP:0000308Microretrognathia0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0000308HP:0000308Microretrognathia0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0000308HP:0000308Microretrognathia0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000308HP:0000308Microretrognathia0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000308HP:0000308Microretrognathia0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000308HP:0000308Microretrognathia0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000308HP:0000308Microretrognathia0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000308HP:0000308Microretrognathia0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000308HP:0000308Microretrognathia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0000308HP:0000308Microretrognathia0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040282 - Frequent34
HP:0000308HP:0000308Microretrognathia0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent10
HP:0000308HP:0000308Microretrognathia0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000308HP:0000308Microretrognathia0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000308HP:0000308Microretrognathia0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0000308HP:0000308Microretrognathia0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0000308HP:0000308Microretrognathia0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional1269
HP:0000308HP:0000308Microretrognathia0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0000308HP:0000308Microretrognathia0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000308HP:0000308Microretrognathia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000308HP:0000308Microretrognathia0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent96
HP:0000308HP:0000308Microretrognathia0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000308HP:0000308Microretrognathia0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000308HP:0000308Microretrognathia0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0000308HP:0000308Microretrognathia0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0000308HP:0000308Microretrognathia0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000308HP:0000308Microretrognathia0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000308HP:0000308Microretrognathia0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000308HP:0000308Microretrognathia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000308HP:0000308Microretrognathia0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 231
HP:0000308HP:0000308Microretrognathia0PRDM13 CL E G H5933613998OMIM:6199092
HP:0000308HP:0000308Microretrognathia0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000308HP:0000308Microretrognathia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000308HP:0000308Microretrognathia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000308HP:0000308Microretrognathia0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent334
HP:0000308HP:0000308Microretrognathia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000308HP:0000308Microretrognathia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000308HP:0000308Microretrognathia0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2.
HP:0000308HP:0000308Microretrognathia0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000308HP:0000308Microretrognathia0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0000308HP:0000308Microretrognathia0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional144
HP:0000308HP:0000308Microretrognathia0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0000308HP:0000308Microretrognathia0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040281 - Very frequent49
HP:0000308HP:0000308Microretrognathia0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000308HP:0000308Microretrognathia0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0000308HP:0000308Microretrognathia0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000308HP:0000308Microretrognathia0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0000308HP:0000308Microretrognathia0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures.2
HP:0000308HP:0000308Microretrognathia0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0000308HP:0000308Microretrognathia0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000308HP:0000308Microretrognathia0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0000308HP:0000308Microretrognathia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000308HP:0000308Microretrognathia0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000308HP:0000308Microretrognathia0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000308HP:0000308Microretrognathia0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000308HP:0000308Microretrognathia0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0000308HP:0000308Microretrognathia0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional7128
HP:0000308HP:0000308Microretrognathia0TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0000308HP:0000308Microretrognathia0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000308HP:0000308Microretrognathia0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000308HP:0000308Microretrognathia0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000308HP:0000308Microretrognathia0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19


Genes (78) :AGRN ALG13 ALG9 ATP6V0A2 B3GAT3 BANF1 C2CD3 CANT1 CEP120 CEP55 CHAT CHST14 CHST3 COL13A1 COL2A1 CREB3L1 CRIPT CSGALNACT1 CTNND2 DHCR7 DSE EBP EIF4A3 FBXL3 GAD1 GLI3 GMNN INTS1 IPO8 KAT6A KATNB1 KCNK9 KIF7 KPTN LMNA MYH7 MYO9A NAA10 NDE1 NFIX NSDHL NSMCE2 OCLN OFD1 ORC6 PAX1 PIGN POLR1D PRDM13 PRORP PUF60 RELN RPL10 RSPO2 RTTN SEC24D SELENON SEMA5A SF3B4 SIN3A SLC10A7 SLC18A3 SLC25A1 SLC35A3 SLC5A7 SNAP25 SYT2 TAF1 TASP1 TELO2 TMEM70 TRIP4 TTN TUBA1A TXNDC15 VAMP1 YARS1 ZC4H2

Diseases (68) :ORPHA:98914 OMIM:300884 ORPHA:79328 OMIM:278250 OMIM:245600 OMIM:614008 ORPHA:434179 OMIM:615948 OMIM:251450 OMIM:616300 OMIM:236500 OMIM:601776 ORPHA:2953 OMIM:200610 OMIM:616229 OMIM:615789 OMIM:618870 ORPHA:281 OMIM:270400 OMIM:300960 OMIM:268305 OMIM:606220 OMIM:619124 ORPHA:672 OMIM:616835 OMIM:618571 OMIM:619472 OMIM:616268 ORPHA:457193 ORPHA:89844 OMIM:612292 OMIM:200990 ORPHA:397612 OMIM:619793 ORPHA:324604 ORPHA:276432 OMIM:300855 OMIM:602535 ORPHA:251383 OMIM:617253 OMIM:251290 OMIM:311200 OMIM:613803 OMIM:615560 ORPHA:280633 OMIM:613717 OMIM:619909 OMIM:619737 ORPHA:508488 ORPHA:508498 OMIM:300998 ORPHA:459070 OMIM:618021 ORPHA:468631 OMIM:616294 ORPHA:1788 OMIM:613406 OMIM:618363 OMIM:615553 OMIM:300966 OMIM:618950 ORPHA:488642 OMIM:614052 OMIM:616866 ORPHA:171680 OMIM:619879 OMIM:619418 OMIM:301041
 

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