TaoMedAI/RareMedData huggingface dataset:
Gene: PLK4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Pointed chin (HP:0000307)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Retinopathy (HP:0000488)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Prominent nose (HP:0000448)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Cataract (HP:0000518)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Proptosis (HP:0000520)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Visual impairment (HP:0000505)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: STAG3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: STAG3
Phenotype: Spermatocyte maturation arrest (HP:0031039)
Associated disease: SPERMATOGENIC FAILURE 61 (OMIM:619672)
Gene: STAG3
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: STAG3
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: STAG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 61 (OMIM:619672)
Gene: STAG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: STAG3
Phenotype: Streak ovary (HP:0010464)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 61 (OMIM:619672)
Gene: STAG3
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: STAG3
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: STAG3
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Gene: STAG3
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: STAG3
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 61 (OMIM:619672)
Gene: STAG2
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Expressive language delay (HP:0002474)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Aplasia of the nose (HP:0009927)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Cyclopia (HP:0009914)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Microtia (HP:0008551)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Microtia (HP:0008551)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Seizure (HP:0001250)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Seizure (HP:0001250)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Cleft palate (HP:0000175)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Submucous cleft of soft and hard palate (HP:0410031)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Cleft lip (HP:0410030)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)