Phenotype: Broad palm (HP:0001169)
Associated genes and diseases:
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: FGD1
disease_id: ORPHA:915
disease_name: Aarskog-Scott syndrome
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: KDM6B
disease_id: OMIM:618505
disease_name: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: DYNC1H1
disease_id: OMIM:614563
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: PIK3CA
disease_id: ORPHA:140944
disease_name: CLOVES syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
gene_symbol: DLG5
disease_id: OMIM:620703
disease_name: YUKSEL-VOGEL-BAUER SYNDROME
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: PTH1R
disease_id: ORPHA:79106
disease_name: Eiken syndrome
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: IFT80
disease_id: OMIM:611263
disease_name: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: SPECC1L
disease_id: OMIM:145420
disease_name: HYPERTELORISM, TEEBI TYPE
gene_symbol: SRRM2
disease_id: OMIM:620439
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: ADAMTS10
disease_id: OMIM:277600
disease_name: WEILL-MARCHESANI SYNDROME 1