TaoMedAI/RareMedData huggingface dataset:
Gene: CNPY3
Phenotype: Hippocampal malrotation (HP:0034396)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: CNPY3
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: CORIN
Phenotype: Increased circulating brain natriuretic peptide concentration (HP:0033534)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Reduced circulating NT-proANP concentration (HP:6000693)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Left atrial fibrosis (HP:6000691)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Proteinuria (HP:0000093)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREECLAMPSIA/ECLAMPSIA 5 (OMIM:614595)
Gene: CORIN
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Atrial flutter (HP:0004749)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Adult onset (HP:0003581)
Associated disease: PREECLAMPSIA/ECLAMPSIA 5 (OMIM:614595)
Gene: CORIN
Phenotype: Abnormal placenta morphology (HP:0100767)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Headache (HP:0002315)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Preeclampsia (HP:0100602)
Associated disease: PREECLAMPSIA/ECLAMPSIA 5 (OMIM:614595)
Gene: CORIN
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Hypertension (HP:0000822)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Hypertension (HP:0000822)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Increased body mass index (HP:0031418)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Gene: CORIN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Helicobacter pylori infection (HP:0005202)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Abnormality of the hepatic vasculature (HP:0006707)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: CORIN
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: POLD3
Phenotype: Abnormal circulating IgM concentration (HP:0410243)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Motor delay (HP:0001270)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Decreased naive CD4-positive T cell proportion (HP:0410378)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Decreased naive CD8 T cell proportion (HP:0410377)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Food allergy (HP:0500093)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Frontal bossing (HP:0002007)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Erythroderma (HP:0001019)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Decreased unswitched memory B cell proportion (HP:0032126)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Dry skin (HP:0000958)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Alopecia (HP:0001596)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Oligoclonal T cell expansion (HP:0031430)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Aplasia of the thymus (HP:0005359)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Splenomegaly (HP:0001744)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease:  (OMIM:620869)
Gene: POLD3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease:  (OMIM:620869)
Gene: CERS1
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Falls (HP:0002527)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Progressive (HP:0003676)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Dementia (HP:0000726)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: CERS1
Phenotype: Action myoclonus (HP:0034360)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 (OMIM:616230)
Gene: TBR1
Phenotype: Hand clenching (HP:0001188)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Long fingers (HP:0100807)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Seizure (HP:0001250)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Inability to walk (HP:0002540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Pachygyria (HP:0001302)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Bullet-shaped distal phalanx of the hallux (HP:0010078)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY (OMIM:606053)
Gene: TBR1
Phenotype: Small face (HP:0000274)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Central apnea (HP:0002871)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Growth delay (HP:0001510)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Short neck (HP:0000470)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Cataract (HP:0000518)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Coloboma (HP:0000589)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: TBR1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion; Del(2)(q24); Monosomy 2q24 (ORPHA:1617)
Gene: AP4B1
Phenotype: Poor speech (HP:0002465)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Seizure (HP:0001250)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Spasticity (HP:0001257)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Waddling gait (HP:0002515)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4B1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
Gene: AP4B1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)