TaoMedAI/RareMedData huggingface dataset:
Gene: NEB
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Waddling gait (HP:0002515)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Waddling gait (HP:0002515)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Death in childhood (HP:0003819)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Neonatal death (HP:0003811)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Late-onset distal muscle weakness (HP:0003810)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Sternocleidomastoid amyotrophy (HP:0012036)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Sternocleidomastoid amyotrophy (HP:0012036)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Micropenis (HP:0000054)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Hypospadias (HP:0000047)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Steppage gait (HP:0003376)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Myopathic facies (HP:0002058)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Apnea (HP:0002104)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Facial palsy (HP:0010628)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Facial palsy (HP:0010628)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Facial palsy (HP:0010628)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Clumsiness (HP:0002312)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Akinesia (HP:0002304)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Narrow chest (HP:0000774)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Narrow chest (HP:0000774)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Abnormality of the diaphragm (HP:0000775)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Myopathy (HP:0003198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Myopathy (HP:0003198)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Thin ribs (HP:0000883)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Narrow face (HP:0000275)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Narrow face (HP:0000275)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Long face (HP:0000276)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Mitochondrial depletion (HP:0030059)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Kyphosis (HP:0002808)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Congenital contracture (HP:0002803)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Large fontanelles (HP:0000239)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: High palate (HP:0000218)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: High palate (HP:0000218)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: High palate (HP:0000218)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Genu valgum (HP:0002857)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Death in infancy (HP:0001522)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 (OMIM:619334)
Gene: NEB
Phenotype: Slender build (HP:0001533)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Slender build (HP:0001533)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Slender build (HP:0001533)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Low-set ears (HP:0000369)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Long philtrum (HP:0000343)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Breech presentation (HP:0001623)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Breech presentation (HP:0001623)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Premature birth (HP:0001622)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: NEB
Phenotype: Genu varum (HP:0002970)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: NEB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Nebulin-related early-onset distal myopathy; Distal nebulin myopathy (ORPHA:399103)
Gene: NEB
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: NEMALINE MYOPATHY 2 (OMIM:256030)
Gene: NEB
Phenotype: Short neck (HP:0000470)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: NEB
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: NEB
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)