TaoMedAI/RareMedData huggingface dataset:
Gene: AP4B1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Dystonia (HP:0001332)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Wide mouth (HP:0000154)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Wide mouth (HP:0000154)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Babinski sign (HP:0003487)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Drooling (HP:0002307)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Amblyopia (HP:0000646)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Short stature (HP:0004322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: High palate (HP:0000218)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: High palate (HP:0000218)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Overweight (HP:0025502)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Overweight (HP:0025502)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Short philtrum (HP:0000322)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Short philtrum (HP:0000322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Strabismus (HP:0000486)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Pes planus (HP:0001763)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: YME1L1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Poor speech (HP:0002465)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Motor delay (HP:0001270)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Seizure (HP:0001250)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Ataxia (HP:0001251)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Absent speech (HP:0001344)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Dysmetria (HP:0001310)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Constipation (HP:0002019)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Gait apraxia (HP:0010521)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Athetosis (HP:0002305)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Amblyopia (HP:0000646)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Short stature (HP:0004322)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Macrotia (HP:0000400)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Strabismus (HP:0000486)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Visual impairment (HP:0000505)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: YME1L1
Phenotype: Myopia (HP:0000545)
Associated disease: OPTIC ATROPHY 11 (OMIM:617302)
Gene: PLK4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Macular atrophy (HP:0007401)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Absent speech (HP:0001344)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLK4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLK4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLK4
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Gene: PLK4
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PLK4
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: PLK4
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)