TaoMedAI/RareMedData huggingface dataset:
Gene: KAT6B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Ectopic thyroid (HP:0100028)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Abnormal cheek morphology (HP:0004426)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Long nose (HP:0003189)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KAT6B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Hip contracture (HP:0003273)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Hip contracture (HP:0003273)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Retrognathia (HP:0000278)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Prominent occiput (HP:0000269)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Colpocephaly (HP:0030048)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Growth delay (HP:0001510)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Low-set ears (HP:0000369)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Low-set ears (HP:0000369)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Low-set ears (HP:0000369)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Long philtrum (HP:0000343)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KAT6B
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Micrognathia (HP:0000347)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Micrognathia (HP:0000347)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KAT6B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Prominent nose (HP:0000448)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Prominent nose (HP:0000448)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Prominent nose (HP:0000448)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Wide nose (HP:0000445)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Wide nose (HP:0000445)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Long hallux (HP:0001847)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KAT6B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; SBBYS variant of Ohdo syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYSS (ORPHA:3047)
Gene: KAT6B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRRM2
Phenotype: Broad palm (HP:0001169)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Spina bifida (HP:0002414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Polyphagia (HP:0002591)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Tall stature (HP:0000098)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Micropenis (HP:0000054)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Broad chin (HP:0011822)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Overfriendliness (HP:0100025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)