TaoMedAI/RareMedData huggingface dataset:
Gene: DYNC1I2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Proptosis (HP:0000520)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DNM2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Areflexia (HP:0001284)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Abnormality of the foot musculature (HP:0001436)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Segmental peripheral demyelination (HP:0007107)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Thin ribs (HP:0000883)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Thin ribs (HP:0000883)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Death in infancy (HP:0001522)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Large for gestational age (HP:0001520)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: Miscarriage (HP:0005268)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Sleepy facial expression (HP:0005335)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (OMIM:606482)
Gene: DNM2
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Ptosis (HP:0000508)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNM2
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (OMIM:615368)
Gene: DNM2
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: DNM2
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DNMT1
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Primitive reflex (HP:0002476)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Primitive reflex (HP:0002476)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Ataxia (HP:0001251)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Spasticity (HP:0001257)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Cataplexy (HP:0002524)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Delirium (HP:0031258)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Babinski sign (HP:0003487)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Progressive (HP:0003676)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Memory impairment (HP:0002354)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Memory impairment (HP:0002354)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Memory impairment (HP:0002354)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Head tremor (HP:0002346)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Resting tremor (HP:0002322)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Irritability (HP:0000737)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Apathy (HP:0000741)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)