TaoMedAI/RareMedData huggingface dataset:
Gene: EEF1A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Gene: EEF1A2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Gene: EEF1A2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF1A2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: EEF2
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Seizure (HP:0001250)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Paralysis (HP:0003470)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EEF2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 26 (OMIM:609306)
Gene: EEF2
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: Spinocerebellar ataxia type 26; SCA26 (ORPHA:101112)
Gene: EFNB1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Hypospadias (HP:0000047)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Hypospadias (HP:0000047)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Woolly hair (HP:0002224)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Curly hair (HP:0002212)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Ridged fingernail (HP:0008402)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Hemihypotrophy of lower limb (HP:0200053)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Broad hallux (HP:0010055)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Unilateral breast hypoplasia (HP:0012813)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: High palate (HP:0000218)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Congenital pseudoarthrosis of the clavicle (HP:0006585)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Congenital pseudoarthrosis of the clavicle (HP:0006585)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Widow's peak (HP:0000349)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Widow's peak (HP:0000349)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Hypoplastic nasal tip (HP:0005278)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)