Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated genes and diseases:
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: TWIST1
disease_id: OMIM:123100
disease_name: CRANIOSYNOSTOSIS 1
gene_symbol: DPH1
disease_id: OMIM:616901
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
gene_symbol: DPH1
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: FGFR2
disease_id: OMIM:123500
disease_name: CROUZON SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: IFT43
disease_id: OMIM:614099
disease_name: CRANIOECTODERMAL DYSPLASIA 3
gene_symbol: WDR19
disease_id: OMIM:614378
disease_name: CRANIOECTODERMAL DYSPLASIA 4
gene_symbol: SPECC1L
disease_id: OMIM:145420
disease_name: HYPERTELORISM, TEEBI TYPE
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME