Phenotype: Abnormal arachnoid mater morphology (HP:0100700)
Associated genes and diseases:
gene_symbol: FOXC2
disease_id: ORPHA:33001
disease_name: Lymphedema-distichiasis syndrome
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: ALKBH8
disease_id: OMIM:618504
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: PUS3
disease_id: OMIM:617051
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE
gene_symbol: PUS3
disease_id: ORPHA:488627
disease_name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
gene_symbol: GPSM2
disease_id: OMIM:604213
disease_name: CHUDLEY-MCCULLOUGH SYNDROME
gene_symbol: CPLANE1
disease_id: OMIM:277170
disease_name: OROFACIODIGITAL SYNDROME VI
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: PLK4
disease_id: OMIM:616171
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
gene_symbol: NOTCH3
disease_id: OMIM:130720
disease_name: LATERAL MENINGOCELE SYNDROME
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
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: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: ADAT3
disease_id: OMIM:615286
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
gene_symbol: CCDC22
disease_id: OMIM:300963
disease_name: RITSCHER-SCHINZEL SYNDROME 2
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: AXIN1
disease_id: OMIM:620558
disease_name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: DNAJB11
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: GANAB
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD2
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: NEK8
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG5
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: IFT140
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG9
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: BICC1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: NARS1
disease_id: OMIM:619091
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
gene_symbol: FGFR2
disease_id: ORPHA:87
disease_name: Apert syndrome
ACS1
Acrocephalosyndactyly type 1
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: SCN2A
disease_id: OMIM:618924
disease_name: EPISODIC ATAXIA, TYPE 9
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: XPNPEP3
disease_id: OMIM:613159
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
gene_symbol: WAC
disease_id: ORPHA:466950
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Desanto-Shinawi syndrome due to WAC point mutation
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: ZIC2
disease_id: OMIM:609637
disease_name: HOLOPROSENCEPHALY 5
gene_symbol: DENND5A
disease_id: OMIM:617281
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49
gene_symbol: SACS
disease_id: ORPHA:98
disease_name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS
Autosomal recessive spastic ataxia type 6
SPAX6
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
gene_symbol: SH2B1
disease_id: ORPHA:261197
disease_name: Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
gene_symbol: PI4KA
disease_id: OMIM:619621
disease_name: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: NRAS
disease_id: OMIM:249400
disease_name: MELANOSIS, NEUROCUTANEOUS
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME