TaoMedAI/RareMedData huggingface dataset:
Gene: FHL1
Phenotype: Muscle fiber intracytoplasmic reducing inclusion bodies (HP:0034320)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Retrognathia (HP:0000278)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Obesity (HP:0001513)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Absent muscle fiber emerin (HP:0030117)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Pugilistic facies (HP:0000339)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Weak voice (HP:0001621)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Broad neck (HP:0000475)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Short neck (HP:0000470)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Short neck (HP:0000470)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Short neck (HP:0000470)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Prominent nose (HP:0000448)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Wide nose (HP:0000445)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Pes cavus (HP:0001761)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Broad nail (HP:0001821)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Ptosis (HP:0000508)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FHL2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKBP5
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Gene: FKBP5
Phenotype: Depression (HP:0000716)
Associated disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Gene: FOXG1
Phenotype: Excessive salivation (HP:0003781)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Sporadic (HP:0003745)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Bruxism (HP:0003763)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
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: FOXG1
Phenotype: Motor delay (HP:0001270)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Seizure (HP:0001250)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
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: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Spasticity (HP:0001257)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Dystonia (HP:0001332)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Absent speech (HP:0001344)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Absent speech (HP:0001344)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Pachygyria (HP:0001302)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
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: FOXG1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Constipation (HP:0002019)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
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: FOXG1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Chorea (HP:0002072)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Apraxia (HP:0002186)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
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: FOXG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Developmental regression (HP:0002376)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Monosomy 14q12; FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12) (ORPHA:261144)
Gene: FOXG1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Drooling (HP:0002307)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
Phenotype: Athetosis (HP:0002305)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Gene: FOXG1
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: FOXG1
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: FOXG1
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: FOXG1
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: FOXG1
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: FOXG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)