Human Phenotype Ontology 
Grandparent Node:
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Abnormal calvaria morphology (HP:0002683)help
Parent Node:
expand
obsolete Abnormality of calvarial morphology (HP:0002648)help
..Starting node
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Plagiocephaly (HP:0001357)help
Term ID: 1357
Name: Plagiocephaly
Synonym: Asymmetry of the posterior cranium; Asymmetry of the posterior head; Asymmetry of the posterior skull; Deformational plagiocephaly; Flat head; Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of head; Flattening of skull; Positional plagiocephaly; Rhomboid shaped cranium; Rhomboid shaped head; Rhomboid shaped skull
Definition: Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
Comments:
Reference: HP:0001357
Genes and Diseases:
 
       Child Nodes:
........expandAnterior plagiocephaly (HP:0011326) help
........expandPosterior plagiocephaly (HP:0011327) help

 Sister Nodes: 
..expandAbnormal parietal bone morphology (HP:0002696) help
..expandAbnormal shape of the frontal region (HP:0011218) help
..expandAbnormal shape of the occiput (HP:0011217) help
..expandAcrania (HP:0030716) help
..expandBiparietal narrowing (HP:0004422) help
..expandBrachycephaly (HP:0000248) help
..expandBroad skull (HP:0002682) help
..expandCalvarial skull defect (HP:0001362) help
..expandCloverleaf skull (HP:0002676) help
..expandCranial asymmetry (HP:0000267) help
..expandCraniosynostosis (HP:0001363) help
..expandDolichocephaly (HP:0000268) help
..expandObliteration of the calvarial diploe (HP:0030312) help
..expandPlatybasia (HP:0002691) help
..expandSkull asymmetry (HP:0002678) help
..expandTrigonocephaly (HP:0000243) help
..expandTurricephaly (HP:0000262) 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:0001357HP:0001357Plagiocephaly0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0001357HP:0001357Plagiocephaly0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001357HP:0001357Plagiocephaly0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0001357HP:0001357Plagiocephaly0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0001357HP:0001357Plagiocephaly0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0001357HP:0001357Plagiocephaly0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001357HP:0001357Plagiocephaly0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0001357HP:0001357Plagiocephaly0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0001357HP:0001357Plagiocephaly0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0001357HP:0001357Plagiocephaly0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001357HP:0001357Plagiocephaly0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0001357HP:0001357Plagiocephaly0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001357HP:0001357Plagiocephaly0ATP2B1 CL E G H490814OMIM:619910
HP:0001357HP:0001357Plagiocephaly0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0001357HP:0001357Plagiocephaly0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0001357HP:0001357Plagiocephaly0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001357HP:0001357Plagiocephaly0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0001357HP:0001357Plagiocephaly0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0001357HP:0001357Plagiocephaly0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0001357HP:0001357Plagiocephaly0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0001357HP:0001357Plagiocephaly0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0001357HP:0001357Plagiocephaly0CDC42BPB CL E G H95781738OMIM:619841
HP:0001357HP:0001357Plagiocephaly0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0001357HP:0001357Plagiocephaly0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0001357HP:0001357Plagiocephaly0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001357HP:0001357Plagiocephaly0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0001357HP:0001357Plagiocephaly0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001357HP:0001357Plagiocephaly0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001357HP:0001357Plagiocephaly0COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040283 - Occasional215
HP:0001357HP:0001357Plagiocephaly0COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040283 - Occasional222
HP:0001357HP:0001357Plagiocephaly0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0001357HP:0001357Plagiocephaly0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0001357HP:0001357Plagiocephaly0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0001357HP:0001357Plagiocephaly0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001357HP:0001357Plagiocephaly0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0001357HP:0001357Plagiocephaly0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001357HP:0001357Plagiocephaly0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13.427
HP:0001357HP:0001357Plagiocephaly0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0001357HP:0001357Plagiocephaly0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare223
HP:0001357HP:0001357Plagiocephaly0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0001357HP:0001357Plagiocephaly0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001357HP:0001357Plagiocephaly0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0001357HP:0001357Plagiocephaly0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0001357HP:0001357Plagiocephaly0FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0001357HP:0001357Plagiocephaly0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0001357HP:0001357Plagiocephaly0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0001357HP:0001357Plagiocephaly0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0001357HP:0001357Plagiocephaly0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0001357HP:0001357Plagiocephaly0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0001357HP:0001357Plagiocephaly0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0001357HP:0001357Plagiocephaly0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0001357HP:0001357Plagiocephaly0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0001357HP:0001357Plagiocephaly0FOCAD CL E G H5491423377OMIM:6199913
HP:0001357HP:0001357Plagiocephaly0GRIA1 CL E G H28904571OMIM:6199273
HP:0001357HP:0001357Plagiocephaly0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001357HP:0001357Plagiocephaly0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001357HP:0001357Plagiocephaly0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001357HP:0001357Plagiocephaly0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0001357HP:0001357Plagiocephaly0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001357HP:0001357Plagiocephaly0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent113
HP:0001357HP:0001357Plagiocephaly0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0001357HP:0001357Plagiocephaly0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001357HP:0001357Plagiocephaly0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0001357HP:0001357Plagiocephaly0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040282 - Frequent34
HP:0001357HP:0001357Plagiocephaly0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0001357HP:0001357Plagiocephaly0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndromeHP:0040282 - Frequent4
HP:0001357HP:0001357Plagiocephaly0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0001357HP:0001357Plagiocephaly0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare99
HP:0001357HP:0001357Plagiocephaly0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent196
HP:0001357HP:0001357Plagiocephaly0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0001357HP:0001357Plagiocephaly0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001357HP:0001357Plagiocephaly0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0001357HP:0001357Plagiocephaly0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0001357HP:0001357Plagiocephaly0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001357HP:0001357Plagiocephaly0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001357HP:0001357Plagiocephaly0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0001357HP:0001357Plagiocephaly0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0001357HP:0001357Plagiocephaly0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0001357HP:0001357Plagiocephaly0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0001357HP:0001357Plagiocephaly0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0001357HP:0001357Plagiocephaly0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001357HP:0001357Plagiocephaly0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001357HP:0001357Plagiocephaly0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0001357HP:0001357Plagiocephaly0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0001357HP:0001357Plagiocephaly0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0001357HP:0001357Plagiocephaly0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001357HP:0001357Plagiocephaly0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0001357HP:0001357Plagiocephaly0NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 257
HP:0001357HP:0001357Plagiocephaly0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0001357HP:0001357Plagiocephaly0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent102
HP:0001357HP:0001357Plagiocephaly0NRCAM CL E G H48977994OMIM:6198332
HP:0001357HP:0001357Plagiocephaly0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001357HP:0001357Plagiocephaly0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0001357HP:0001357Plagiocephaly0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0001357HP:0001357Plagiocephaly0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0001357HP:0001357Plagiocephaly0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001357HP:0001357Plagiocephaly0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0001357HP:0001357Plagiocephaly0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0001357HP:0001357Plagiocephaly0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0001357HP:0001357Plagiocephaly0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0001357HP:0001357Plagiocephaly0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0001357HP:0001357Plagiocephaly0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0001357HP:0001357Plagiocephaly0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0001357HP:0001357Plagiocephaly0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0001357HP:0001357Plagiocephaly0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0001357HP:0001357Plagiocephaly0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001357HP:0001357Plagiocephaly0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001357HP:0001357Plagiocephaly0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001357HP:0001357Plagiocephaly0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0001357HP:0001357Plagiocephaly0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0001357HP:0001357Plagiocephaly0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0001357HP:0001357Plagiocephaly0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0001357HP:0001357Plagiocephaly0PPP3CA CL E G H55309314OMIM:618265Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.2
HP:0001357HP:0001357Plagiocephaly0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0001357HP:0001357Plagiocephaly0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0001357HP:0001357Plagiocephaly0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001357HP:0001357Plagiocephaly0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0001357HP:0001357Plagiocephaly0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0001357HP:0001357Plagiocephaly0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0001357HP:0001357Plagiocephaly0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0001357HP:0001357Plagiocephaly0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0001357HP:0001357Plagiocephaly0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0001357HP:0001357Plagiocephaly0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001357HP:0001357Plagiocephaly0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0001357HP:0001357Plagiocephaly0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0001357HP:0001357Plagiocephaly0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001357HP:0001357Plagiocephaly0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0001357HP:0001357Plagiocephaly0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0001357HP:0001357Plagiocephaly0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0001357HP:0001357Plagiocephaly0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0001357HP:0001357Plagiocephaly0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0001357HP:0001357Plagiocephaly0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0001357HP:0001357Plagiocephaly0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001357HP:0001357Plagiocephaly0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0001357HP:0001357Plagiocephaly0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001357HP:0001357Plagiocephaly0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0001357HP:0001357Plagiocephaly0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0001357HP:0001357Plagiocephaly0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0001357HP:0001357Plagiocephaly0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0001357HP:0001357Plagiocephaly0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0001357HP:0001357Plagiocephaly0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0001357HP:0001357Plagiocephaly0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0001357HP:0001357Plagiocephaly0TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome.18
HP:0001357HP:0001357Plagiocephaly0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0001357HP:0001357Plagiocephaly0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0001357HP:0001357Plagiocephaly0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001357HP:0001357Plagiocephaly0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0001357HP:0001357Plagiocephaly0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0001357HP:0001357Plagiocephaly0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0001357HP:0001357Plagiocephaly0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001357HP:0001357Plagiocephaly0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0001357HP:0001357Plagiocephaly0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0001357HP:0001357Plagiocephaly0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 6HP:0040283 - Occasional5
HP:0001357HP:0001357Plagiocephaly0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0001357HP:0001357Plagiocephaly0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001357HP:0011327Posterior plagiocephaly1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001357HP:0011326Anterior plagiocephaly1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0001357HP:0011326Anterior plagiocephaly1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0001357HP:0011327Posterior plagiocephaly1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0001357HP:0011327Posterior plagiocephaly1CDC42BPB CL E G H95781738OMIM:619841
HP:0001357HP:0011327Posterior plagiocephaly1GRIA1 CL E G H28904571OMIM:6199273
HP:0001357HP:0011326Anterior plagiocephaly1PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0001357HP:0011326Anterior plagiocephaly1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0001357HP:0011326Anterior plagiocephaly1TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628


Genes (136) :ADAR ADARB1 ADAT3 ADNP AFF4 AGO2 ALG12 ALX4 ARID1B ARID2 ARX ATP2B1 ATP6V1B2 B3GALT6 BLTP1 BMP4 CA2 CAMK2A CASK CCDC47 CDC42BPB CDK13 CHAMP1 CHN1 CHSY1 CLCN3 CNOT3 COL11A1 COL11A2 COL25A1 CYFIP2 DHX37 DLK1 DPYS DPYSL5 DYNC1H1 EFNB1 EHMT1 EIF5A EMC10 ERGIC1 ERMARD FAM20C FBXL4 FBXO11 FGFR2 FGFR3 FKTN FOCAD GRIA1 H3-3A H3-3B HEPHL1 HERC2 HNRNPH1 HRAS IFIH1 INPP5E KAT6A KIDINS220 KMT2C KRAS LMX1B LSM11 MADD MAF MAFB MAPK1 MBTPS2 MED12 MED13L MEG3 MESD MN1 MYMK NALCN NEPRO NFIX NLGN4X NONO NRAS NRCAM PCGF2 PGAP2 PGAP3 PHF21A PIGA PIGL PIGO PIGQ PIGV PIGW PIGY PKDCC POLR2A PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PRKAR1B PRUNE1 RAC1 RAC3 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROBO3 RTL1 SALL4 SAMHD1 SCYL2 SET SLC26A2 SMARCA2 SMC3 SPTBN1 STXBP1 SUPT16H TBC1D24 TBCD TCF12 TCF20 TREX1 TUBB3 TWIST1 UGDH UNC80 USP7 WBP11 WDR35 ZBTB20 ZIC1 ZNF292 ZNF699

Diseases (125) :ORPHA:51 OMIM:618862 ORPHA:363528 ORPHA:404448 ORPHA:444077 OMIM:619149 ORPHA:79324 OMIM:613451 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:308350 OMIM:619910 ORPHA:79500 ORPHA:536467 OMIM:617822 OMIM:607932 ORPHA:2785 OMIM:617798 OMIM:300749 OMIM:618268 OMIM:619841 OMIM:617360 OMIM:616579 ORPHA:233 OMIM:605282 OMIM:619512 OMIM:618672 ORPHA:2021 ORPHA:1143 OMIM:618008 OMIM:618731 ORPHA:96334 OMIM:222748 OMIM:619435 OMIM:614563 ORPHA:1520 ORPHA:261652 OMIM:619376 OMIM:619264 ORPHA:75857 OMIM:259775 OMIM:615471 OMIM:618089 OMIM:101400 ORPHA:794 OMIM:602849 ORPHA:53271 ORPHA:272 OMIM:619991 OMIM:619927 OMIM:619720 OMIM:619721 OMIM:261990 OMIM:615516 OMIM:620083 ORPHA:2612 OMIM:213300 OMIM:616268 ORPHA:457193 OMIM:617296 ORPHA:521390 OMIM:617768 ORPHA:495818 OMIM:619005 ORPHA:1272 OMIM:619087 ORPHA:85284 ORPHA:93932 OMIM:305450 ORPHA:369891 OMIM:616789 OMIM:618644 OMIM:618774 OMIM:254940 ORPHA:371364 OMIM:618853 ORPHA:420179 OMIM:300495 ORPHA:466791 OMIM:619833 OMIM:618371 ORPHA:247262 OMIM:618725 OMIM:301072 OMIM:280000 OMIM:614749 OMIM:618548 OMIM:239300 OMIM:618821 OMIM:618603 OMIM:619383 OMIM:618354 OMIM:616362 ORPHA:457284 ORPHA:457279 OMIM:618265 OMIM:619680 OMIM:617481 ORPHA:544469 OMIM:617751 ORPHA:500159 OMIM:618577 OMIM:607313 OMIM:618106 ORPHA:56304 OMIM:619293 OMIM:610759 OMIM:619475 OMIM:619480 ORPHA:496641 OMIM:617193 OMIM:619718 OMIM:618430 ORPHA:300570 OMIM:180750 OMIM:618792 OMIM:616801 ORPHA:500055 OMIM:619227 OMIM:613610 ORPHA:3042 OMIM:616602 OMIM:619188 OMIM:619488
 

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