Phenotype: Long foot (HP:0001833)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: UPF3B
disease_id: OMIM:300676
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: PPARG
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: FOS
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
gene_symbol: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: RPS6KA3
disease_id: OMIM:300844
disease_name: MENTAL RETARDATION, X-LINKED 19
gene_symbol: SIM1
disease_id: ORPHA:171829
disease_name: 6q16 microdeletion syndrome
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: PACS1
disease_id: OMIM:615009
disease_name: SCHUURS-HOEIJMAKERS SYNDROME
gene_symbol: UBE3B
disease_id: ORPHA:2707
disease_name: Oculocerebrofacial syndrome, Kaufman type
gene_symbol: MEN1
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
gene_symbol: AIP
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly