TaoMedAI/RareMedData huggingface dataset:
Gene: TAB2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TAB2
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TAB2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Gene: TAB2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAB2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TAB2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAB2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POGZ
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Syndactyly (HP:0001159)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Motor delay (HP:0001270)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Seizure (HP:0001250)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Hypotonia (HP:0001252)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Waddling gait (HP:0002515)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Micropenis (HP:0000054)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Absent speech (HP:0001344)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Wormian bones (HP:0002645)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Open mouth (HP:0000194)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Open mouth (HP:0000194)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Bifid uvula (HP:0000193)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Macroglossia (HP:0000158)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Cleft palate (HP:0000175)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Wide mouth (HP:0000154)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Floppy infant (HP:0008947)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Recurrent infections (HP:0002719)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Constipation (HP:0002019)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Poor suck (HP:0002033)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Midface retrusion (HP:0011800)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Infantile onset (HP:0003593)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Congenital onset (HP:0003577)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Vitiligo (HP:0001045)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Incoordination (HP:0002311)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Nystagmus (HP:0000639)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Blindness (HP:0000618)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Broad thumb (HP:0011304)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Short stature (HP:0004322)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Short stature (HP:0004322)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Antenatal onset (HP:0030674)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Hyperactivity (HP:0000752)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Overfriendliness (HP:0100025)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Tics (HP:0100033)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Irritability (HP:0000737)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Anxiety (HP:0000739)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Autistic behavior (HP:0000729)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Anisometropia (HP:0012803)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Joint contracture (HP:0034392)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Sparse hair (HP:0008070)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Epicanthus (HP:0000286)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Retrognathia (HP:0000278)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Mild myopia (HP:0025573)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Malar flattening (HP:0000272)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Malar flattening (HP:0000272)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Clinodactyly (HP:0030084)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Microcephaly (HP:0000252)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Microcephaly (HP:0000252)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; White-Sutton syndrome (ORPHA:468678)
Gene: POGZ
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Gene: POGZ
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: WHITE-SUTTON SYNDROME (OMIM:616364)