TaoMedAI/RareMedData huggingface dataset:
Gene: DNASE1L3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Small vessel vasculitis (HP:0011944)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Angioedema (HP:0100665)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Cough (HP:0012735)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Childhood onset (HP:0011463)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Hematuria (HP:0000790)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Reduced circulating complement concentration (HP:0004431)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Pruritus (HP:0000989)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Skin rash (HP:0000988)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Ascites (HP:0001541)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Gene: DNASE1L3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE1L3
Phenotype: Uveitis (HP:0000554)
Associated disease: Anti-C1q vasculitis; Mac Duffie syndrome; Hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; McDuffie syndrome; McDuffie hypocomplementemic urticarial vasculitis (ORPHA:36412)
Gene: DNASE2
Phenotype: Granuloma (HP:0032252)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Motor delay (HP:0001270)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Proteinuria (HP:0000093)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Congenital onset (HP:0003577)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Chilblains (HP:0009710)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Intestinal inflammation (HP:4000055)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Fever (HP:0001945)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Arthropathy (HP:0003040)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Growth delay (HP:0001510)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Severe Epstein Barr virus infection (HP:0031693)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DNASE2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Gene: DYNC1H1
Phenotype: Broad palm (HP:0001169)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Waddling gait (HP:0002515)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Pachygyria (HP:0001302)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Frontal polymicrogyria (HP:0006821)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Short palm (HP:0004279)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Difficulty running (HP:0009046)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Difficulty running (HP:0009046)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Broad foot (HP:0001769)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Gene: DYNC1H1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1H1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Gene: DYNC1H1
Phenotype: Talipes (HP:0001883)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Gene: DYNC1I2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Gene: DYNC1I2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)