Phenotype: Cupped ear (HP:0000378)
Associated genes and diseases:
gene_symbol: FOXL2
disease_id: OMIM:110100
disease_name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
gene_symbol: IGBP1
disease_id: OMIM:300472
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
gene_symbol: IGBP1
disease_id: ORPHA:52055
disease_name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Graham-Cox syndrome
gene_symbol: DHCR24
disease_id: OMIM:602398
disease_name: DESMOSTEROLOSIS
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: CHD5
disease_id: OMIM:619873
disease_name: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME
gene_symbol: CTCF
disease_id: ORPHA:363611
disease_name: CTCF-related neurodevelopmental disorder
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: EYA1
disease_id: OMIM:602588
disease_name: BRANCHIOOTIC SYNDROME 1
gene_symbol: EYA1
disease_id: OMIM:166780
disease_name: OTOFACIOCERVICAL SYNDROME 1
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: PIEZO1
disease_id: OMIM:616843
disease_name: LYMPHATIC MALFORMATION 6
gene_symbol: EDNRA
disease_id: OMIM:616367
disease_name: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: FGF10
disease_id: OMIM:620193
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME 3
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: FGFR3
disease_id: OMIM:620192
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME 2
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: DACT1
disease_id: OMIM:617466
disease_name: TOWNES-BROCKS SYNDROME 2
gene_symbol: QRICH1
disease_id: OMIM:617982
disease_name: VERVERI-BRADY SYNDROME
gene_symbol: PAX1
disease_id: OMIM:615560
disease_name: OTOFACIOCERVICAL SYNDROME 2
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: DHODH
disease_id: OMIM:263750
disease_name: POSTAXIAL ACROFACIAL DYSOSTOSIS
gene_symbol: DHODH
disease_id: ORPHA:246
disease_name: Postaxial acrofacial dysostosis
Acrofacial dysostosis, Genee-Wiedemann type
Mandibulofacial dysostosis with postaxial limb anomalies
Miller syndrome
POADS
Postaxial acrodysostosis
gene_symbol: PQBP1
disease_id: ORPHA:93945
disease_name: X-linked intellectual disability, Porteous type
gene_symbol: PQBP1
disease_id: ORPHA:93946
disease_name: Hamel cerebro-palato-cardiac syndrome
gene_symbol: PQBP1
disease_id: ORPHA:93947
disease_name: X-linked intellectual disability, Golabi-Ito-Hall type
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:617746
disease_name: SWEENEY-COX SYNDROME
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: BRWD3
disease_id: OMIM:300659
disease_name: MENTAL RETARDATION, X-LINKED 93
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: DDX11
disease_id: OMIM:613398
disease_name: WARSAW BREAKAGE SYNDROME
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: POU3F3
disease_id: OMIM:618604
disease_name: SNIJDERS BLOK-FISHER SYNDROME
gene_symbol: ECE1
disease_id: OMIM:613870
disease_name: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: ZMYM3
disease_id: OMIM:301111
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: KDM6A
disease_id: OMIM:300867
disease_name: KABUKI SYNDROME 2
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: ZNF292
disease_id: OMIM:619188
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: ZNF462
disease_id: OMIM:618619
disease_name: WEISS-KRUSZKA SYNDROME
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE