TaoMedAI/RareMedData huggingface dataset:
Gene: ETHE1
Phenotype: Elevated circulating butyrylcarnitine concentration (HP:0033446)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Petechiae (HP:0000967)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Petechiae (HP:0000967)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Death in infancy (HP:0001522)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: BRD4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Seizure (HP:0001250)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Volvulus (HP:0002580)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Neoplasm (HP:0002664)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Oropharyngeal squamous cell carcinoma (HP:0012182)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hair-pulling (HP:0012167)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Pancreatic squamous cell carcinoma (HP:0012142)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Cleft lip (HP:0410030)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Pancreatoblastoma (HP:0100757)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Small hand (HP:0200055)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Short palm (HP:0004279)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Leukemia (HP:0001909)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Synophrys (HP:0000664)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Synophrys (HP:0000664)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Short stature (HP:0004322)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Third trimester onset (HP:0034197)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Anxiety (HP:0000739)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Autism (HP:0000717)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Psychosis (HP:0000709)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Short nose (HP:0003196)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Short nose (HP:0003196)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Posterior rib fusion (HP:0000913)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Ewing sarcoma (HP:0012254)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: High palate (HP:0000218)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: BRD4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Low-set ears (HP:0000369)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Long philtrum (HP:0000343)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Micromelia (HP:0002983)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Premature birth (HP:0001622)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Blepharitis (HP:0000498)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Macrotia (HP:0000400)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Macrotia (HP:0000400)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Strabismus (HP:0000486)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Strabismus (HP:0000486)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Microcornea (HP:0000482)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Short neck (HP:0000470)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Short foot (HP:0001773)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Cataract (HP:0000518)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Telecanthus (HP:0000506)
Associated disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Gene: BRD4
Phenotype: Ptosis (HP:0000508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Talipes (HP:0001883)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: BRD4
Phenotype: Myopia (HP:0000545)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: ISCU
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Dyspnea (HP:0002094)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)