TaoMedAI/RareMedData huggingface dataset:
Gene: FGF10
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Epicanthus (HP:0000286)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Lacrimal gland hypoplasia (HP:0007732)
Associated disease: APLASIA OF LACRIMAL AND SALIVARY GLANDS (OMIM:180920)
Gene: FGF10
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Clinodactyly (HP:0030084)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Xerostomia (HP:0000217)
Associated disease: APLASIA OF LACRIMAL AND SALIVARY GLANDS (OMIM:180920)
Gene: FGF10
Phenotype: Xerostomia (HP:0000217)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Xerostomia (HP:0000217)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Cupped ear (HP:0000378)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Cupped ear (HP:0000378)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Hypoplasia of the lacrimal punctum (HP:0007892)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Low-set ears (HP:0000369)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Micrognathia (HP:0000347)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Anosmia (HP:0000458)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Choanal atresia (HP:0000453)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF10
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Alacrima (HP:0000522)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Ptosis (HP:0000508)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Exotropia (HP:0000577)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGF10
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Esotropia (HP:0000565)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Gene: FGF10
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF10
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF12
Phenotype: Poor speech (HP:0002465)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Limb ataxia (HP:0002070)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Agitation (HP:0000713)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FGF12
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: FGF12
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: FGF12
Phenotype: Chronic constipation (HP:0012450)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF12
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)