TaoMedAI/RareMedData huggingface dataset:
Gene: PRRX1
Phenotype: Microglossia (HP:0000171)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Absent nares (HP:0100596)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Synotia (HP:0100663)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Synotia (HP:0100663)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Aglossia (HP:0012730)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Fetal onset (HP:0011461)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Gene: PRRX1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PRRX1
Phenotype: Wide nose (HP:0000445)
Associated disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Gene: PNLIP
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
Gene: PNLIP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
Gene: PNLIP
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
Gene: PNLIP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
Gene: PNLIP
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
Gene: PNLIP
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
Gene: PODXL
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Anarthria (HP:0002425)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Seizure (HP:0001250)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Inability to walk (HP:0002540)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Dystonia (HP:0001332)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Myoclonus (HP:0001336)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Rigidity (HP:0002063)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Postural instability (HP:0002172)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Resting tremor (HP:0002322)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Slowed slurred speech (HP:0007164)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Akinesia (HP:0002304)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Fatigue (HP:0012378)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Weak voice (HP:0001621)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PODXL
Phenotype: Pes cavus (HP:0001761)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: PODXL
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: POLA1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Pulmonary valve atresia (HP:0010882)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Microtia (HP:0008551)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Microtia (HP:0008551)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Seizure (HP:0001250)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Colitis (HP:0002583)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Spasticity (HP:0001257)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Unilateral vocal cord paralysis (HP:0008757)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Clubbing (HP:0001217)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Wide mouth (HP:0000154)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Generalized reticulate brown pigmentation (HP:0007599)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Increased circulating interleukin 8 concentration (HP:0033178)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Reduced circulating interferon gamma concentration (HP:0033253)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Impulsivity (HP:0100710)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Photophobia (HP:0000613)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Retractile testis (HP:0012646)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Short stature (HP:0004322)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Short nose (HP:0003196)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Retrognathia (HP:0000278)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Retrognathia (HP:0000278)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Long face (HP:0000276)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Urethral stricture (HP:0012227)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Gene: POLA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Growth delay (HP:0001510)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Cutaneous amyloidosis (HP:0012309)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Protruding ear (HP:0000411)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Gene: POLA1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Gene: POLA1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)