Phenotype: Bilateral cryptorchidism (HP:0008689)
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: IFT172
disease_id: OMIM:619471
disease_name: BARDET-BIEDL SYNDROME 20
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
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: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: ZBTB20
disease_id: ORPHA:3042
disease_name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
gene_symbol: VPS50
disease_id: OMIM:619685
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance 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: TWIST1
disease_id: OMIM:617746
disease_name: SWEENEY-COX SYNDROME
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: MRAP
disease_id: OMIM:607398
disease_name: GLUCOCORTICOID DEFICIENCY 2
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: LSS
disease_id: OMIM:618840
disease_name: ALOPECIA-MENTAL RETARDATION SYNDROME 4
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: PAICS
disease_id: OMIM:619859
disease_name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: TMEM231
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TOPORS
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TCTN3
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: PDE6D
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TMEM216
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: OFD1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: FAM149B1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KIF7
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KLHL15
disease_id: OMIM:300982
disease_name: MENTAL RETARDATION, X-LINKED 103
gene_symbol: GTF2H5
disease_id: OMIM:616395
disease_name: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: WDR37
disease_id: OMIM:618652
disease_name: NEUROOCULOCARDIOGENITOURINARY SYNDROME
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: MCM5
disease_id: OMIM:617564
disease_name: MEIER-GORLIN SYNDROME 8
gene_symbol: AMHR2
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: AMH
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: POLE
disease_id: OMIM:618336
disease_name: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY