TaoMedAI/RareMedData huggingface dataset:
Gene: LHX4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
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: LHX4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Infertility (HP:0000789)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Gene: LHX4
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Abnormal prolactin level (HP:0040086)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Osteopenia (HP:0000938)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Short finger (HP:0009381)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Facial edema (HP:0000282)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Overweight (HP:0025502)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Death in infancy (HP:0001522)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: LHX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Growth delay (HP:0001510)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Growth delay (HP:0001510)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Fatigue (HP:0012378)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Fatigue (HP:0012378)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Bradycardia (HP:0001662)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Short neck (HP:0000470)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: LHX4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHX4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: LHX4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LHX4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Urethrovaginal fistula (HP:0008716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Nephropathy (HP:0000112)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Renal cyst (HP:0000107)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)