Phenotype: Narrow palpebral fissure (HP:0045025)
Associated genes and diseases:
gene_symbol: FOXL2
disease_id: OMIM:110100
disease_name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
gene_symbol: LARP7
disease_id: OMIM:615071
disease_name: ALAZAMI SYNDROME
gene_symbol: LARP7
disease_id: ORPHA:319671
disease_name: Alazami syndrome
Microcephalic primordial dwarfism, Alazami type
gene_symbol: GATAD2B
disease_id: OMIM:615074
disease_name: GAND SYNDROME
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: RBMX
disease_id: OMIM:300238
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: TRMT1
disease_id: OMIM:618302
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
gene_symbol: SLC6A17
disease_id: ORPHA:457212
disease_name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
gene_symbol: SLC6A17
disease_id: OMIM:616269
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
gene_symbol: SRCAP
disease_id: OMIM:619595
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: ADAMTSL2
disease_id: OMIM:231050
disease_name: GELEOPHYSIC DYSPLASIA 1
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: SPOP
disease_id: OMIM:618828
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 1
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: RECQL4
disease_id: OMIM:266280
disease_name: RAPADILINO SYNDROME
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: RTL1
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: DLK1
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: MEG3
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: DGCR8
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: TBX1
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR6
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: ESS2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: SMARCA2
disease_id: OMIM:619293
disease_name: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: TRIP12
disease_id: OMIM:617752
disease_name: CLARK-BARAITSER SYNDROME
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: MED13
disease_id: OMIM:618009
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: PIK3CA
disease_id: OMIM:606773
disease_name: HEMIFACIAL MYOHYPERPLASIA
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: KPTN
disease_id: ORPHA:397612
disease_name: Macrocephaly-developmental delay syndrome
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: TENM3
disease_id: OMIM:615145
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
gene_symbol: DDR2
disease_id: OMIM:618175
disease_name: WARBURG-CINOTTI SYNDROME
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: B9D2
disease_id: OMIM:614175
disease_name: MECKEL SYNDROME, TYPE 10
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: MAPKAPK5
disease_id: OMIM:619869
disease_name: NEUROCARDIOFACIODIGITAL SYNDROME
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: DOCK6
disease_id: OMIM:614219
disease_name: ADAMS-OLIVER SYNDROME 2
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME