TaoMedAI/RareMedData huggingface dataset:
Gene: DPM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Absent smooth pursuit (HP:0007179)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Contractures of the large joints (HP:0005781)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Short nose (HP:0003196)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Short nose (HP:0003196)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Osteopenia (HP:0000938)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: High palate (HP:0000218)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Strabismus (HP:0000486)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: HESX1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
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: HESX1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HESX1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HESX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
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: HESX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SEPTOOPTIC DYSPLASIA (OMIM:182230)
Gene: HESX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Lethargy (HP:0001254)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
Phenotype: Seizure (HP:0001250)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Seizure (HP:0001250)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: HESX1
Phenotype: Seizure (HP:0001250)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: HESX1
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HESX1
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: HESX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HESX1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: HESX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HESX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SEPTOOPTIC DYSPLASIA (OMIM:182230)
Gene: HESX1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: HESX1
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: HESX1
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: HESX1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: HESX1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HESX1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: HESX1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HESX1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HESX1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: HESX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: HESX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HESX1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: HESX1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: SEPTOOPTIC DYSPLASIA (OMIM:182230)
Gene: HESX1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: HESX1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: HESX1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HESX1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HESX1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HESX1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HESX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)