TaoMedAI/RareMedData huggingface dataset:
Gene: SEC16B
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLCZ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 17 (OMIM:617214)
Gene: PLCZ1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 17 (OMIM:617214)
Gene: PLCZ1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 17 (OMIM:617214)
Gene: SLC25A21
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Falls (HP:0002527)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Clonus (HP:0002169)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Elevated urinary quinolinic acid level (HP:6000335)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: SLC25A21
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Gene: CFAP91
Phenotype: Absent sperm axoneme central pair complex (HP:0033525)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Macrozoospermia (HP:0025437)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Microcephalic sperm head (HP:0032561)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: CFAP91
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Gene: LHX4
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Marked delay in bone age (HP:0003799)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
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: LHX4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
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: LHX4
Phenotype: Lethargy (HP:0001254)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Seizure (HP:0001250)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Seizure (HP:0001250)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
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: LHX4
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
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: LHX4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Impaired growth-hormone response to insulin stimulation test (HP:0031079)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
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: LHX4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
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: LHX4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
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: LHX4
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: LHX4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Hypotension (HP:0002615)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Macroglossia (HP:0000158)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Inappropriate antidiuretic hormone secretion (HP:0031218)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Constipation (HP:0002019)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Constipation (HP:0002019)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
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: LHX4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Hypothermia (HP:0002045)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Polydactyly (HP:0010442)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
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: LHX4
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
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: LHX4
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
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: LHX4
Phenotype: Small sella turcica (HP:0010538)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
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: LHX4
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: LHX4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
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: LHX4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
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: LHX4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
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: LHX4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Short stature (HP:0004322)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
Phenotype: Short stature (HP:0004322)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
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)