Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: FGFR3
disease_id: ORPHA:15
disease_name: Achondroplasia
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: PPM1D
disease_id: OMIM:617450
disease_name: JANSEN-DE VRIES SYNDROME
gene_symbol: MSX2
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: MSX2
disease_id: OMIM:168550
disease_name: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA
gene_symbol: MSX2
disease_id: OMIM:168500
disease_name: PARIETAL FORAMINA 1
gene_symbol: ALX4
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: ALX4
disease_id: OMIM:609597
disease_name: PARIETAL FORAMINA 2
gene_symbol: ALX4
disease_id: ORPHA:52022
disease_name: Potocki-Shaffer syndrome
11p11.2 deletion
Proximal 11p deletion syndrome
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: EXT2
disease_id: ORPHA:52022
disease_name: Potocki-Shaffer syndrome
11p11.2 deletion
Proximal 11p deletion syndrome
gene_symbol: PHF21A
disease_id: ORPHA:52022
disease_name: Potocki-Shaffer syndrome
11p11.2 deletion
Proximal 11p deletion syndrome