Phenotype: Chronic constipation (HP:0012450)
Associated genes and diseases:
gene_symbol: IGBP1
disease_id: OMIM:300472
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
gene_symbol: RORA
disease_id: OMIM:618060
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: SH2B1
disease_id: ORPHA:261222
disease_name: Distal 16p11.2 microdeletion syndrome
Distal del(16)(p11.2)
Distal monosomy 16p11.2
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: MLYCD
disease_id: OMIM:248360
disease_name: MALONYL-CoA DECARBOXYLASE DEFICIENCY
gene_symbol: UGP2
disease_id: OMIM:618744
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83
gene_symbol: H1-4
disease_id: OMIM:617537
disease_name: RAHMAN SYNDROME
gene_symbol: TANC2
disease_id: OMIM:618906
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: POGZ
disease_id: ORPHA:468678
disease_name: White-Sutton syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: RAI1
disease_id: ORPHA:477817
disease_name: PMP22-RAI1 contiguous gene duplication syndrome
17p11.2p12 microduplication syndrome
Dup(17)(p11.2p12)
Trisomy 17p11.2-p12
Trisomy 17p11.2p12
Yuan-Harel-Lupski syndrome
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
gene_symbol: USP9X
disease_id: OMIM:300919
disease_name: MENTAL RETARDATION, X-LINKED 99
gene_symbol: AFG2A
disease_id: OMIM:616577
disease_name: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: DCPS
disease_id: OMIM:616459
disease_name: AL-RAQAD SYNDROME
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: LMNB1
disease_id: OMIM:619179
disease_name: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: SETD1A
disease_id: OMIM:619056
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
gene_symbol: NSD2
disease_id: OMIM:619695
disease_name: RAUCH-STEINDL SYNDROME
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: FAR1
disease_id: OMIM:619338
disease_name: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
gene_symbol: GBA1
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: DNAJC13
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: EIF4G1
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: VPS35
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: LRRK2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: GIGYF2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: SNCA
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: MED13
disease_id: OMIM:618009
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: LMNB2
disease_id: OMIM:619180
disease_name: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: ERBB2
disease_id: OMIM:619465
disease_name: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE
gene_symbol: ZNF292
disease_id: OMIM:619188
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: FGF12
disease_id: OMIM:617166
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47
gene_symbol: ABL1
disease_id: OMIM:617602
disease_name: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: PLCB4
disease_id: OMIM:620458
disease_name: AURICULOCONDYLAR SYNDROME 2B
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: SLC25A36
disease_id: OMIM:620211
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: MYH11
disease_id: OMIM:619350
disease_name: VISCERAL MYOPATHY 2
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
gene_symbol: PPP2R1A
disease_id: OMIM:616362
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
gene_symbol: USP7
disease_id: ORPHA:500055
disease_name: Hao-Fountain syndrome due to 16p13.2 microdeletion
Chromosome 16p13.2 deletion syndrome
Del(16)(p13.2)
Monosomy 16p13.2
gene_symbol: UPF3B
disease_id: OMIM:300676
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: POU4F1
disease_id: OMIM:619352
disease_name: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: OTUD6B
disease_id: OMIM:617452
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
gene_symbol: TRIO
disease_id: OMIM:618825
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: DDOST
disease_id: OMIM:614507
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: WASF1
disease_id: OMIM:618707
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
gene_symbol: SPOP
disease_id: OMIM:618829
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 2
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: MYO1H
disease_id: OMIM:619482
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: SLC12A2
disease_id: OMIM:619080
disease_name: KILQUIST SYNDROME
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
gene_symbol: LBX1
disease_id: OMIM:619483
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3
gene_symbol: SLC38A3
disease_id: OMIM:619881
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: TCEAL1
disease_id: OMIM:301094
disease_name: HIJAZI-REIS SYNDROME
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: SOX17
disease_id: OMIM:613674
disease_name: VESICOURETERAL REFLUX 3
gene_symbol: GRIA1
disease_id: OMIM:619931
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:618333
disease_name: MENKE-HENNEKAM SYNDROME 2
gene_symbol: MARS2
disease_id: OMIM:616430
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
gene_symbol: B2M
disease_id: OMIM:620659
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: PAK2
disease_id: OMIM:618458
disease_name: KNOBLOCH SYNDROME 2
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME