TaoMedAI/RareMedData huggingface dataset:
Gene: CRLF1
Phenotype: Wheezing (HP:0030828)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Retrognathia (HP:0000278)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Full cheeks (HP:0000293)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: High palate (HP:0000218)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: High palate (HP:0000218)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Trismus (HP:0000211)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Bronchitis (HP:0012387)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: CRLF1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Keratitis (HP:0000491)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Short neck (HP:0000470)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Pes planus (HP:0001763)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Wide nose (HP:0000445)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Wide nose (HP:0000445)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CRLF1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
Gene: CRLF1
Phenotype: Weight loss (HP:0001824)
Associated disease: Idiopathic achalasia; Achalasia cardia; Primary achalasia; Idiopathic achalasia of esophagus (ORPHA:930)
Gene: GCM2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 (OMIM:618883)
Gene: GCM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Gene: GCM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Congenital hypoparathyroidism (HP:0008198)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 (OMIM:618883)
Gene: GCM2
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Parathyroid agenesis (HP:0008211)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Gene: GCM2
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Adult onset (HP:0003581)
Associated disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Gene: GCM2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 (OMIM:618883)
Gene: GCM2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Gene: GCM2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Abdominal symptom (HP:0011458)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Gene: GCM2
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Male infertility (HP:0003251)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Gene: GCM2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: GCM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 (OMIM:618883)
Gene: GCM2
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 (OMIM:618883)
Gene: GCM2
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (ORPHA:2239)
Gene: GCM2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: HYPERPARATHYROIDISM 4 (OMIM:617343)
Gene: GCM2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GCM2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GCM2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CACNA2D2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Inability to walk (HP:0002540)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Absent speech (HP:0001344)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Chorea (HP:0002072)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: CACNA2D2
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Gene: AIMP1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Projectile vomiting (HP:0002587)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Diffuse cerebral sclerosis (HP:0006918)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Joint contracture (HP:0034392)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Sudanophilic leukodystrophy (HP:0003269)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Death in infancy (HP:0001522)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
Gene: AIMP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)