TaoMedAI/RareMedData huggingface dataset:
Gene: RASGRP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Epistaxis (HP:0000421)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Gene: RASGRP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RASGRP2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RASGRP2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HNRNPR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Micropenis (HP:0000054)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Coxa valga (HP:0002673)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Short palm (HP:0004279)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Short distal phalanx of the 5th finger (HP:0004227)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Broad hallux (HP:0010055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Broad thumb (HP:0011304)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Precocious puberty (HP:0000826)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Clinodactyly of the 2nd toe (HP:0005824)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Pes valgus (HP:0008081)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Short neck (HP:0000470)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Short foot (HP:0001773)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: HNRNPR
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Gene: GPHN
Phenotype: Hypocystinemia (HP:0500152)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Hypertaurinemia (HP:0500181)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Poor head control (HP:0002421)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Hypertonia (HP:0001276)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Hypertonia (HP:0001276)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Seizure (HP:0001250)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Spasticity (HP:0001257)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Neonatal death (HP:0003811)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Myoclonus (HP:0001336)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Myoclonus (HP:0001336)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)
Gene: GPHN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Rigidity (HP:0002063)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GPHN
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Gene: GPHN
Phenotype: Apnea (HP:0002104)
Associated disease: HYPEREKPLEXIA 1 (OMIM:149400)