TaoMedAI/RareMedData huggingface dataset:
Gene: FGF12
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: FGF12
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: FGF12
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: FGF12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Gene: FGF13
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110 (OMIM:301095)
Gene: FGF13
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110 (OMIM:301095)
Gene: FGF13
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110 (OMIM:301095)
Gene: FGF13
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110 (OMIM:301095)
Gene: FGF13
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Constipation (HP:0002019)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Abdominal pain (HP:0002027)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Bradykinesia (HP:0002067)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110 (OMIM:301095)
Gene: FGF13
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Babinski sign (HP:0003487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110 (OMIM:301095)
Gene: FGF13
Phenotype: Ankle clonus (HP:0011448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Gene: FGF13
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF13
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: FGF14
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Dysarthria (HP:0001260)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Tremor (HP:0001337)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Abnormal vestibulo-ocular reflex (HP:0007670)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Limb ataxia (HP:0002070)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Postural tremor (HP:0002174)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Downbeat nystagmus (HP:0010545)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Hand tremor (HP:0002378)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Memory impairment (HP:0002354)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Nonprogressive (HP:0003680)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Vertigo (HP:0002321)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Akinesia (HP:0002304)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Absent smooth pursuit (HP:0007179)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Diplopia (HP:0000651)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Depression (HP:0000716)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Depression (HP:0000716)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Upbeat nystagmus (HP:0011477)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Childhood onset (HP:0011463)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Gene: FGF14
Phenotype: Strabismus (HP:0000486)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Strabismus (HP:0000486)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGF14
Phenotype: Pes cavus (HP:0001761)
Associated disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Gene: FGF14
Phenotype: Pes cavus (HP:0001761)
Associated disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Gene: FGFR1
Phenotype: Split hand (HP:0001171)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Broad palm (HP:0001169)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Syndactyly (HP:0001159)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Syndactyly (HP:0001159)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Short middle phalanx of toe (HP:0003795)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Sporadic (HP:0003745)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: 3-4 toe cutaneous syndactyly (HP:6000648)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Seizure (HP:0001250)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Seizure (HP:0001250)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)