TaoMedAI/RareMedData huggingface dataset:
Gene: STAG2
Phenotype: Constipation (HP:0002019)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Constipation (HP:0002019)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Poor suck (HP:0002033)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Poor suck (HP:0002033)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Vomiting (HP:0002013)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Vomiting (HP:0002013)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Temperature instability (HP:0005968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Temperature instability (HP:0005968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Polydactyly (HP:0010442)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Facial palsy (HP:0010628)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Thoracic hemivertebrae (HP:0008467)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Median cleft palate (HP:0009099)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Alobar holoprosencephaly (HP:0006988)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Short stature (HP:0004322)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Short stature (HP:0004322)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Short stature (HP:0004322)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Short stature (HP:0004322)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Irritability (HP:0000737)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Irritability (HP:0000737)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Anxiety (HP:0000739)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Anxiety (HP:0000739)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Anxiety (HP:0000739)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Apathy (HP:0000741)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Apathy (HP:0000741)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Depression (HP:0000716)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Depression (HP:0000716)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Absent stapes (HP:0011456)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Proboscis (HP:0012806)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Proboscis (HP:0012806)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Apical muscular ventricular septal defect (HP:0011624)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormality of the palpebral fissures (HP:0008050)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Full cheeks (HP:0000293)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Colpocephaly (HP:0030048)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Low-set ears (HP:0000369)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Micrognathia (HP:0000347)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Triangular face (HP:0000325)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Gene: STAG2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Xq25 microtriplication; Xq25 microduplication syndrome; Dup(X)(q25) (ORPHA:521258)
Gene: STAG2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STAG2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STAG2
Phenotype: Pes planus (HP:0001763)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Prominent nose (HP:0000448)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: STAG2
Phenotype: Proptosis (HP:0000520)
Associated disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Gene: SIX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Abnormal skull base morphology (HP:0002693)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Short stature (HP:0004322)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Prominent palatine ridges (HP:0010291)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: High forehead (HP:0000348)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Premature posterior fontanelle closure (HP:0005494)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Absent/hypoplastic paranasal sinuses (HP:0005453)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Ptosis (HP:0000508)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: SIX2
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Gene: RAI1
Phenotype: Broad palm (HP:0001169)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Broad palm (HP:0001169)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)