Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormality of the forehead (HP:0000290)help
..Starting node
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Narrow forehead (HP:0000341)help
Term ID: 341
Name: Narrow forehead
Synonym: Bitemporal narrowing; Bitemporal narrowness; Bitemporal skull narrowing; Decreased width of the forehead; Intertemporal narrowing; Narrow bitemporal diameter; Narrow bitemporal width; Narrow forehead; Temporal narrowness
Definition: Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Comments:
Reference: HP:0000341
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of frontalis muscle belly (HP:3000004) help
..expandAbnormality of the frontal hairline (HP:0000599) help
..expandAbnormality of the glabella (HP:0002056) help
..expandAbnormality of the metopic suture (HP:0005556) help
..expandBroad forehead (HP:0000337) help
..expandFlat forehead (HP:0004425) help
..expandForehead hyperpigmentation (HP:0005336) help
..expandFrontal bossing (HP:0002007) help
..expandFrontal hirsutism (HP:0011335) help
..expandHigh forehead (HP:0000348) help
..expandLarge forehead (HP:0002003) help
..expandProminent forehead (HP:0011220) help
..expandSloping forehead (HP:0000340) help
..expandSmall forehead (HP:0000350) help
..expandVertical forehead creases (HP:0011221) 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:0000341HP:0000341Narrow forehead0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0000341HP:0000341Narrow forehead0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000341HP:0000341Narrow forehead0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000341HP:0000341Narrow forehead0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0000341HP:0000341Narrow forehead0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0000341HP:0000341Narrow forehead0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0000341HP:0000341Narrow forehead0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0000341HP:0000341Narrow forehead0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000341HP:0000341Narrow forehead0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0000341HP:0000341Narrow forehead0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000341HP:0000341Narrow forehead0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0000341HP:0000341Narrow forehead0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0000341HP:0000341Narrow forehead0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000341HP:0000341Narrow forehead0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000341HP:0000341Narrow forehead0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0000341HP:0000341Narrow forehead0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000341HP:0000341Narrow forehead0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000341HP:0000341Narrow forehead0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000341HP:0000341Narrow forehead0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000341HP:0000341Narrow forehead0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000341HP:0000341Narrow forehead0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000341HP:0000341Narrow forehead0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000341HP:0000341Narrow forehead0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0000341HP:0000341Narrow forehead0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000341HP:0000341Narrow forehead0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000341HP:0000341Narrow forehead0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0000341HP:0000341Narrow forehead0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000341HP:0000341Narrow forehead0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000341HP:0000341Narrow forehead0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000341HP:0000341Narrow forehead0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040283 - Occasional405
HP:0000341HP:0000341Narrow forehead0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0000341HP:0000341Narrow forehead0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000341HP:0000341Narrow forehead0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000341HP:0000341Narrow forehead0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000341HP:0000341Narrow forehead0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000341HP:0000341Narrow forehead0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000341HP:0000341Narrow forehead0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000341HP:0000341Narrow forehead0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000341HP:0000341Narrow forehead0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000341HP:0000341Narrow forehead0DOCK7 CL E G H8544019190OMIM:615859Epileptic encephalopathy, early infantile, 23.11
HP:0000341HP:0000341Narrow forehead0DPH5 CL E G H5161124270OMIM:620070
HP:0000341HP:0000341Narrow forehead0DTYMK CL E G H18413061OMIM:619847
HP:0000341HP:0000341Narrow forehead0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000341HP:0000341Narrow forehead0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7.134
HP:0000341HP:0000341Narrow forehead0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000341HP:0000341Narrow forehead0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000341HP:0000341Narrow forehead0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000341HP:0000341Narrow forehead0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000341HP:0000341Narrow forehead0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0000341HP:0000341Narrow forehead0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000341HP:0000341Narrow forehead0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000341HP:0000341Narrow forehead0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000341HP:0000341Narrow forehead0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000341HP:0000341Narrow forehead0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000341HP:0000341Narrow forehead0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0000341HP:0000341Narrow forehead0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0000341HP:0000341Narrow forehead0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040283 - Occasional4
HP:0000341HP:0000341Narrow forehead0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000341HP:0000341Narrow forehead0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000341HP:0000341Narrow forehead0H4C9 CL E G H82944793OMIM:619951
HP:0000341HP:0000341Narrow forehead0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000341HP:0000341Narrow forehead0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000341HP:0000341Narrow forehead0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0000341HP:0000341Narrow forehead0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0000341HP:0000341Narrow forehead0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000341HP:0000341Narrow forehead0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0000341HP:0000341Narrow forehead0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040281 - Very frequent34
HP:0000341HP:0000341Narrow forehead0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent10
HP:0000341HP:0000341Narrow forehead0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000341HP:0000341Narrow forehead0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000341HP:0000341Narrow forehead0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000341HP:0000341Narrow forehead0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000341HP:0000341Narrow forehead0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0000341HP:0000341Narrow forehead0LETM1 CL E G H39546556OMIM:6200892
HP:0000341HP:0000341Narrow forehead0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000341HP:0000341Narrow forehead0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0000341HP:0000341Narrow forehead0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000341HP:0000341Narrow forehead0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000341HP:0000341Narrow forehead0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000341HP:0000341Narrow forehead0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000341HP:0000341Narrow forehead0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000341HP:0000341Narrow forehead0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0000341HP:0000341Narrow forehead0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000341HP:0000341Narrow forehead0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0000341HP:0000341Narrow forehead0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000341HP:0000341Narrow forehead0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000341HP:0000341Narrow forehead0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000341HP:0000341Narrow forehead0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040282 - Frequent7
HP:0000341HP:0000341Narrow forehead0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0000341HP:0000341Narrow forehead0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000341HP:0000341Narrow forehead0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000341HP:0000341Narrow forehead0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000341HP:0000341Narrow forehead0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000341HP:0000341Narrow forehead0MTSS2 CL E G H9215425094OMIM:620086
HP:0000341HP:0000341Narrow forehead0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000341HP:0000341Narrow forehead0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000341HP:0000341Narrow forehead0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000341HP:0000341Narrow forehead0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000341HP:0000341Narrow forehead0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000341HP:0000341Narrow forehead0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent96
HP:0000341HP:0000341Narrow forehead0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000341HP:0000341Narrow forehead0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0000341HP:0000341Narrow forehead0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000341HP:0000341Narrow forehead0NRCAM CL E G H48977994OMIM:6198332
HP:0000341HP:0000341Narrow forehead0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000341HP:0000341Narrow forehead0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0000341HP:0000341Narrow forehead0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0000341HP:0000341Narrow forehead0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000341HP:0000341Narrow forehead0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000341HP:0000341Narrow forehead0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000341HP:0000341Narrow forehead0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000341HP:0000341Narrow forehead0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040281 - Very frequent12
HP:0000341HP:0000341Narrow forehead0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000341HP:0000341Narrow forehead0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000341HP:0000341Narrow forehead0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0000341HP:0000341Narrow forehead0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000341HP:0000341Narrow forehead0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000341HP:0000341Narrow forehead0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000341HP:0000341Narrow forehead0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyHP:0040284 - Very rare
HP:0000341HP:0000341Narrow forehead0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000341HP:0000341Narrow forehead0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000341HP:0000341Narrow forehead0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040283 - Occasional54
HP:0000341HP:0000341Narrow forehead0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000341HP:0000341Narrow forehead0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000341HP:0000341Narrow forehead0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0000341HP:0000341Narrow forehead0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000341HP:0000341Narrow forehead0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000341HP:0000341Narrow forehead0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000341HP:0000341Narrow forehead0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0000341HP:0000341Narrow forehead0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000341HP:0000341Narrow forehead0QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
HP:0000341HP:0000341Narrow forehead0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0000341HP:0000341Narrow forehead0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0000341HP:0000341Narrow forehead0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0000341HP:0000341Narrow forehead0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040282 - Frequent334
HP:0000341HP:0000341Narrow forehead0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000341HP:0000341Narrow forehead0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000341HP:0000341Narrow forehead0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000341HP:0000341Narrow forehead0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040281 - Very frequent1200
HP:0000341HP:0000341Narrow forehead0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0000341HP:0000341Narrow forehead0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000341HP:0000341Narrow forehead0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0000341HP:0000341Narrow forehead0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0000341HP:0000341Narrow forehead0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000341HP:0000341Narrow forehead0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040282 - Frequent40
HP:0000341HP:0000341Narrow forehead0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000341HP:0000341Narrow forehead0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000341HP:0000341Narrow forehead0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0000341HP:0000341Narrow forehead0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0000341HP:0000341Narrow forehead0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000341HP:0000341Narrow forehead0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0000341HP:0000341Narrow forehead0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000341HP:0000341Narrow forehead0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000341HP:0000341Narrow forehead0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000341HP:0000341Narrow forehead0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000341HP:0000341Narrow forehead0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000341HP:0000341Narrow forehead0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0000341HP:0000341Narrow forehead0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000341HP:0000341Narrow forehead0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000341HP:0000341Narrow forehead0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000341HP:0000341Narrow forehead0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000341HP:0000341Narrow forehead0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000341HP:0000341Narrow forehead0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000341HP:0000341Narrow forehead0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000341HP:0000341Narrow forehead0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000341HP:0000341Narrow forehead0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0000341HP:0000341Narrow forehead0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000341HP:0000341Narrow forehead0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000341HP:0000341Narrow forehead0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0000341HP:0000341Narrow forehead0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0000341HP:0000341Narrow forehead0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000341HP:0000341Narrow forehead0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000341HP:0000341Narrow forehead0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000341HP:0000341Narrow forehead0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0000341HP:0000341Narrow forehead0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000341HP:0000341Narrow forehead0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000341HP:0000341Narrow forehead0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000341HP:0000341Narrow forehead0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000341HP:0000341Narrow forehead0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000341HP:0000341Narrow forehead0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000341HP:0000341Narrow forehead0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0000341HP:0000341Narrow forehead0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000341HP:0000341Narrow forehead0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000341HP:0000341Narrow forehead0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0000341HP:0000341Narrow forehead0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1


Genes (159) :ADAM22 AFF4 AMER1 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 ASPM ASXL1 ATN1 ATP6AP2 ATRX BICRA BMP2 BRAF CAMK2B CAMK2G CARS1 CCDC47 CCDC88A CDC42 CDH11 CDKL5 COG7 COL18A1 CTCF CTU2 DCHS1 DDX6 DHCR7 DLK1 DOCK7 DPH5 DTYMK DYRK1A ELN EPG5 FAT4 FRMD4A FUT8 GNB2 GNPTAB GON7 GPAA1 GPT2 GTPBP2 H3-3A H4C9 HERC2 HS2ST1 IER3IP1 IFT140 IPW KAT6A KATNB1 KCNK4 KCNK9 KDM4B LAGE3 LETM1 LGI4 LIG4 LMNB1 LZTR1 MADD MAGEL2 MAP2K2 MAPK1 MAPKAPK5 MED13L MEG3 MEIS2 MKRN3 MKRN3-AS1 MLXIPL MN1 MTSS2 MYO18B MYOD1 NAA10 NAA20 NBAS NDE1 NEXMIF NF1 NPAP1 NRCAM NUP107 NUP133 NUP188 OSGEP PIGB PIGN PIGT PIGU PIGY PPP1CB PPP1R15B PPP1R21 PPP2R3C PPP2R5D PRKAR1B PSPH PUF60 PUM1 PURA PWAR1 PWRN1 PYCR2 QARS1 RAB3GAP1 RARS2 RBBP8 RELN RNF13 RTL1 RYR1 SC5D SERPINH1 SETBP1 SHOC2 SIM1 SLC12A2 SLC12A6 SLC16A2 SLC25A46 SMARCD1 SMC1A SMG9 SMPD4 SNORD115-1 SNORD116-1 SNRPN SON SOX6 SPATA5L1 SPEN SPOP SPRED2 SPTBN1 SUOX TBC1D24 TBCD TBCK TCF4 TMCO1 TNPO2 TRAPPC4 TRAPPC9 TRMT10A TUBGCP2 UGP2 USP9X VPS53 WDR35 ZIC2 ZNF148 ZNHIT3

Diseases (167) :OMIM:617933 ORPHA:444077 OMIM:300373 OMIM:615809 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:608716 OMIM:605039 OMIM:618494 OMIM:300423 OMIM:309580 OMIM:619325 OMIM:617877 OMIM:115150 OMIM:613707 OMIM:613706 OMIM:617799 OMIM:618522 OMIM:618891 OMIM:618268 OMIM:617507 ORPHA:487796 OMIM:616737 OMIM:211380 ORPHA:505652 OMIM:608779 OMIM:267750 ORPHA:363611 OMIM:618142 OMIM:601390 OMIM:618653 OMIM:270400 ORPHA:254528 ORPHA:411986 OMIM:615859 OMIM:620070 OMIM:619847 ORPHA:464311 OMIM:614104 OMIM:194050 OMIM:242840 OMIM:615546 OMIM:616819 ORPHA:466688 OMIM:618005 OMIM:619503 OMIM:252500 OMIM:619603 OMIM:617810 ORPHA:529665 OMIM:616281 ORPHA:477673 OMIM:617988 OMIM:619720 OMIM:619951 OMIM:176270 OMIM:619194 OMIM:614231 OMIM:266920 OMIM:616268 ORPHA:457193 ORPHA:89844 OMIM:618381 OMIM:612292 ORPHA:166108 OMIM:619320 OMIM:301006 OMIM:620089 OMIM:617468 OMIM:606593 OMIM:619179 OMIM:616564 OMIM:619004 OMIM:615547 OMIM:615280 OMIM:619087 OMIM:619869 ORPHA:369891 OMIM:616789 ORPHA:261190 OMIM:600987 OMIM:618774 OMIM:620086 OMIM:616549 OMIM:618975 ORPHA:276432 OMIM:619717 OMIM:614800 OMIM:300912 ORPHA:363700 OMIM:619833 OMIM:618348 OMIM:616730 OMIM:618349 OMIM:618804 OMIM:617729 OMIM:618580 OMIM:614080 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:616809 OMIM:617506 ORPHA:391408 OMIM:619383 OMIM:618419 OMIM:616355 OMIM:619680 ORPHA:79350 ORPHA:508488 OMIM:615583 OMIM:617931 ORPHA:314655 OMIM:616420 ORPHA:481152 OMIM:615760 OMIM:600118 OMIM:611523 OMIM:606744 OMIM:618379 ORPHA:544503 ORPHA:324581 ORPHA:46059 OMIM:607330 OMIM:613848 ORPHA:798 OMIM:607721 ORPHA:171829 OMIM:619080 OMIM:218000 OMIM:300523 OMIM:616505 OMIM:618779 OMIM:300590 OMIM:301044 OMIM:616920 OMIM:618622 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:618971 OMIM:619616 OMIM:619312 OMIM:618828 OMIM:619745 OMIM:619475 OMIM:272300 OMIM:220500 OMIM:617193 OMIM:616900 ORPHA:2896 OMIM:610954 OMIM:213980 OMIM:619556 OMIM:618741 ORPHA:352530 OMIM:618737 OMIM:618744 OMIM:300968 ORPHA:480880 OMIM:615851 OMIM:613610 OMIM:609637 OMIM:617260 OMIM:260565
 

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