Phenotype: Periorbital fullness (HP:0000629)
Associated genes and diseases:
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: PLPBP
disease_id: OMIM:617290
disease_name: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
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: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: SRCAP
disease_id: OMIM:619595
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
gene_symbol: H4C11
disease_id: OMIM:619759
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: TWIST2
disease_id: OMIM:227260
disease_name: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
gene_symbol: RPS23
disease_id: OMIM:617412
disease_name: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: WDR4
disease_id: OMIM:618347
disease_name: GALLOWAY-MOWAT SYNDROME 6
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: DOCK7
disease_id: OMIM:615859
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: NRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: HRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: PPP2CA
disease_id: OMIM:618354
disease_name: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: KMT2E
disease_id: OMIM:618512
disease_name: O'DONNELL-LURIA-RODAN SYNDROME
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: VPS33A
disease_id: ORPHA:505248
disease_name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-like plus disease
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: GNE
disease_id: ORPHA:3166
disease_name: Sialuria
Sialuria, French type
gene_symbol: FTSJ1
disease_id: OMIM:309549
disease_name: MENTAL RETARDATION, X-LINKED 9
gene_symbol: NSD2
disease_id: OMIM:619695
disease_name: RAUCH-STEINDL SYNDROME
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: MED13
disease_id: OMIM:618009
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: CHD1
disease_id: OMIM:617682
disease_name: PILAROWSKI-BJORNSSON SYNDROME
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: ARX
disease_id: OMIM:300419
disease_name: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
gene_symbol: ANKRD17
disease_id: OMIM:619504
disease_name: CHOPRA-AMIEL-GORDON SYNDROME