TaoMedAI/RareMedData huggingface dataset:
Gene: DHX9
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Neonatal onset (HP:0003623)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Short stature (HP:0004322)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Epicanthus (HP:0000286)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Retrognathia (HP:0000278)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Microcephaly (HP:0000252)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Failure to thrive (HP:0001508)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Small for gestational age (HP:0001518)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Low-set ears (HP:0000369)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Smooth philtrum (HP:0000319)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Hypertelorism (HP:0000316)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease:  (OMIM:620988)
Gene: DHX9
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease:  (OMIM:620988)
Gene: DDX11
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Hypotonia (HP:0001252)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Wide mouth (HP:0000154)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Congenital onset (HP:0003577)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Epicanthus (HP:0000286)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Small face (HP:0000274)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Microcephaly (HP:0000252)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: High palate (HP:0000218)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Cupped ear (HP:0000378)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Narrow forehead (HP:0000341)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Sloping forehead (HP:0000340)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DDX11
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Gene: DES
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Z-band streaming (HP:0020203)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Scapuloperoneal weakness (HP:0003704)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Constipation (HP:0002019)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Diarrhea (HP:0002014)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Dysphagia (HP:0002015)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Middle age onset (HP:0003596)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Adult onset (HP:0003581)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Gynecomastia (HP:0000771)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Young adult onset (HP:0011462)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Bradycardia (HP:0001662)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Desmin-related myofibrillar myopathy; Desminopathy (ORPHA:98909)
Gene: DES
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: DES
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Gene: DES
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DES
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Gene: DES
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Gene: CFD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT FACTOR D DEFICIENCY (OMIM:613912)
Gene: CFD
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: COMPLEMENT FACTOR D DEFICIENCY (OMIM:613912)
Gene: CFD
Phenotype: Partial functional complement factor D deficiency (HP:0008338)
Associated disease: COMPLEMENT FACTOR D DEFICIENCY (OMIM:613912)
Gene: TIMM8A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Postlingual sensorineural hearing impairment (HP:0008596)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Postlingual sensorineural hearing impairment (HP:0008596)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Dysarthria (HP:0001260)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Spasticity (HP:0001257)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Inability to walk (HP:0002540)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Abnormal posturing (HP:0002533)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Dystonia (HP:0001332)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Dystonia (HP:0001332)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Tremor (HP:0001337)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Tremor (HP:0001337)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Dysphagia (HP:0002015)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Babinski sign (HP:0003487)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Apraxia (HP:0002186)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Postural instability (HP:0002172)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Paranoia (HP:0011999)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Photophobia (HP:0000613)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Photophobia (HP:0000613)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Central scotoma (HP:0000603)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)