TaoMedAI/RareMedData huggingface dataset:
Gene: GLI2
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Temperature instability (HP:0005968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Temperature instability (HP:0005968)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Temperature instability (HP:0005968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Temperature instability (HP:0005968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Asthma (HP:0002099)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Polydactyly (HP:0010442)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Congenital onset (HP:0003577)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Midnasal stenosis (HP:0010644)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Hypoplasia of the premaxilla (HP:0010650)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Anterior pituitary agenesis (HP:0010626)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Anterior pituitary agenesis (HP:0010626)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Hemangioma (HP:0001028)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Median cleft palate (HP:0009099)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Alobar holoprosencephaly (HP:0006988)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Short stature (HP:0004322)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Short stature (HP:0004322)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Short stature (HP:0004322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Short stature (HP:0004322)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Short stature (HP:0004322)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Short stature (HP:0004322)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Short stature (HP:0004322)
Associated disease: CULLER-JONES SYNDROME (OMIM:615849)
Gene: GLI2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Rhombencephalosynapsis (HP:0031913)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Ectopic anterior pituitary gland (HP:0012731)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Irritability (HP:0000737)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Irritability (HP:0000737)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Irritability (HP:0000737)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Irritability (HP:0000737)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Anxiety (HP:0000739)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Anxiety (HP:0000739)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Anxiety (HP:0000739)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Anxiety (HP:0000739)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Short attention span (HP:0000736)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Apathy (HP:0000741)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Apathy (HP:0000741)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Apathy (HP:0000741)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Apathy (HP:0000741)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Depression (HP:0000716)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Depression (HP:0000716)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Depression (HP:0000716)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Depression (HP:0000716)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)