TaoMedAI/RareMedData huggingface dataset:
Gene: LAMC3
Phenotype: Focal impaired awareness automatism seizure (HP:0032909)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: LAMC3
Phenotype: Visual loss (HP:0000572)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: IKZF1
Phenotype: Fetal distress (HP:0025116)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Excessive salivation (HP:0003781)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Sepsis (HP:0100806)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Dysuria (HP:0100518)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Acantholysis (HP:0100792)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Erythema (HP:0010783)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Photophobia (HP:0000613)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Fever (HP:0001945)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Entropion (HP:0000621)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Anemia (HP:0001903)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Cough (HP:0012735)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Macule (HP:0012733)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Young adult onset (HP:0011462)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Abnormality of the urethra (HP:0000795)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Fatigue (HP:0012378)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: IKZF1
Phenotype: Weight loss (HP:0001824)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Dermatostomatitis, Stevens Johnson type; Stevens-Johnson syndrome (ORPHA:36426)
Gene: IKZF1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Gene: KLHL41
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Motor delay (HP:0001270)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Motor delay (HP:0001270)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Motor delay (HP:0001270)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Areflexia (HP:0001284)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Areflexia (HP:0001284)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Waddling gait (HP:0002515)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Waddling gait (HP:0002515)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Micropenis (HP:0000054)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Scoliosis (HP:0002650)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Dysphagia (HP:0002015)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Dysphagia (HP:0002015)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Facial palsy (HP:0010628)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Facial palsy (HP:0010628)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Facial palsy (HP:0010628)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Clumsiness (HP:0002312)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Narrow chest (HP:0000774)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Narrow chest (HP:0000774)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Narrow chest (HP:0000774)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Abnormality of the diaphragm (HP:0000775)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Myopathy (HP:0003198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Myopathy (HP:0003198)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Thin ribs (HP:0000883)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Narrow face (HP:0000275)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Narrow face (HP:0000275)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Long face (HP:0000276)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Kyphosis (HP:0002808)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: High palate (HP:0000218)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: High palate (HP:0000218)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)