TaoMedAI/RareMedData huggingface dataset:
Gene: SLC39A14
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Ankle clonus (HP:0011448)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Osteosclerosis of the base of the skull (HP:0005746)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Hyposmia (HP:0004409)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Hyperostosis cranialis interna (HP:0005890)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Mastoiditis (HP:0000265)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Impaired mastication (HP:0005216)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Tinnitus (HP:0000360)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Hypomimic face (HP:0000338)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Scissor gait (HP:0012407)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Scissor gait (HP:0012407)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Proptosis (HP:0000520)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: KAT6B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Motor delay (HP:0001270)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Seizure (HP:0001250)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Hypotonia (HP:0001252)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Enlarged labia minora (HP:0008683)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Small scrotum (HP:0000046)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Small scrotum (HP:0000046)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Micropenis (HP:0000054)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Joint hypermobility (HP:0001382)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Hypospadias (HP:0000047)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Cryptorchidism (HP:0000028)
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: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Inferior pubic ramus hypoplasia (HP:0008823)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Specific learning disability (HP:0001328)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KAT6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Pachygyria (HP:0001302)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Scoliosis (HP:0002650)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Bifid uvula (HP:0000193)
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: Submucous cleft hard palate (HP:0000176)
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: Cleft palate (HP:0000175)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
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 thumb (HP:0032524)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Anal stenosis (HP:0002025)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Anal atresia (HP:0002023)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Thyroid hypoplasia (HP:0005990)
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: Dysphagia (HP:0002015)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Thyroid agenesis (HP:0008191)
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: Thyroid dysgenesis (HP:0008188)
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: Malrotation of small bowel (HP:0004794)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Apnea (HP:0002104)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Camptodactyly of finger (HP:0100490)
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: Infantile onset (HP:0003593)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Fine hair (HP:0002213)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Recurrent respiratory infections (HP:0002205)
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: Abnormal antihelix morphology (HP:0009738)
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: Feeding difficulties (HP:0011968)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Feeding difficulties (HP:0011968)
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: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Severe short stature (HP:0003510)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Neoplasm of the tongue (HP:0100648)
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: Short phalanx of finger (HP:0009803)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
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: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KAT6B
Phenotype: Short palm (HP:0004279)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
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: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Gene: KAT6B
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Microdontia (HP:0000691)
Associated disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Gene: KAT6B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KAT6B
Phenotype: Short stature (HP:0004322)
Associated disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Gene: KAT6B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KAT6B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)