TaoMedAI/RareMedData huggingface dataset:
Gene: POMT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Pachygyria (HP:0001302)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Pachygyria (HP:0001302)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Pachygyria (HP:0001302)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Triceps weakness (HP:0031108)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Macroglossia (HP:0000158)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Macroglossia (HP:0000158)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Floppy infant (HP:0008947)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Anal atresia (HP:0002023)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Myalgia (HP:0003326)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Dyspnea (HP:0002094)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Gowers sign (HP:0003391)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Clonus (HP:0002169)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Facial palsy (HP:0010628)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Frequent falls (HP:0002359)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: POMT1-related limb-girdle muscular dystrophy R11; POMT1-related LGMD R11; Limb-girdle muscular dystrophy type 2K; Autosomal recessive limb-girdle muscular dystrophy type 2K; LGMD2K; Limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD type 2K (ORPHA:86812)
Gene: POMT1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: POMT1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)