TaoMedAI/RareMedData huggingface dataset:
Gene: KCNT1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Clonus (HP:0002169)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Gliosis (HP:0002171)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Progressive (HP:0003676)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Inability to walk by childhood/adolescence (HP:0006915)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Anxiety (HP:0000739)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Depression (HP:0000716)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Depression (HP:0000716)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Psychosis (HP:0000709)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (OMIM:615005)
Gene: KCNT1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Generalized-onset motor seizure (HP:0032677)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Focal hyperkinetic seizure (HP:0011174)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Focal autonomic seizure (HP:0011154)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNT1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 (OMIM:614959)
Gene: KCNT1
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: KCNT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: RIC1
Phenotype: Microtia (HP:0008551)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Cleft lip (HP:0410030)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Asthma (HP:0002099)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Amblyopia (HP:0000646)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Tooth malposition (HP:0000692)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Epicanthus (HP:0000286)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Long face (HP:0000276)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Increased overbite (HP:0011094)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: RIC1
Phenotype: Strabismus (HP:0000486)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: RIC1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATIFA SYNDROME (OMIM:618761)
Gene: MRTFA
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Gene: MRTFA
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Gene: MRTFA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Gene: MRTFA
Phenotype: Otitis externa (HP:0410017)
Associated disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Gene: MRTFA
Phenotype: Pustule (HP:0200039)
Associated disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Gene: MRTFA
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Gene: MRTFA
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: IMMUNODEFICIENCY 66 (OMIM:618847)
Gene: ZNF687
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: ZNF687
Phenotype: Bone pain (HP:0002653)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: ZNF687
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: ZNF687
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: ZNF687
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: ZNF687
Phenotype: Adult onset (HP:0003581)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: ZNF687
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: ZNF687
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)