TaoMedAI/RareMedData huggingface dataset:
Gene: GLE1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Slender long bone (HP:0003100)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Widening of cervical spinal canal (HP:0004571)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Edema (HP:0000969)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Retrognathia (HP:0000278)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Gene: GLE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Short neck (HP:0000470)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Gene: GLE1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Ptosis (HP:0000508)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLE1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: GLE1
Phenotype: Myopia (HP:0000545)
Associated disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Gene: GLI1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: POLYDACTYLY, PREAXIAL I (OMIM:174400)
Gene: GLI1
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: POLYDACTYLY, PREAXIAL I (OMIM:174400)
Gene: GLI1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Hydroureter (HP:0000072)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Epispadias (HP:0000039)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A8 (OMIM:618123)
Gene: GLI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYDACTYLY, PREAXIAL I (OMIM:174400)
Gene: GLI1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Emphysema (HP:0002097)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A8 (OMIM:618123)
Gene: GLI1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A8 (OMIM:618123)
Gene: GLI1
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Microdontia (HP:0000691)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Short stature (HP:0004322)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A8 (OMIM:618123)
Gene: GLI1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Radial deviation of thumb terminal phalanx (HP:0005895)
Associated disease: POLYDACTYLY, PREAXIAL I (OMIM:174400)
Gene: GLI1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A8 (OMIM:618123)
Gene: GLI1
Phenotype: Short thorax (HP:0010306)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Genu valgum (HP:0002857)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A8 (OMIM:618123)
Gene: GLI1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Conical incisor (HP:0011065)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Micromelia (HP:0002983)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Strabismus (HP:0000486)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: GLI2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Lateral ventricular asymmetry (HP:0100960)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Poor speech (HP:0002465)
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: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Occipital meningocele (HP:0002436)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Limb dystonia (HP:0002451)
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: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Oromotor apraxia (HP:0007301)
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: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Single naris (HP:0009932)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Single naris (HP:0009932)
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: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Cyclopia (HP:0009914)
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: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Sporadic (HP:0003745)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GLI2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)