TaoMedAI/RareMedData huggingface dataset:
Gene: POMT1
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
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: Proximal amyotrophy (HP:0007126)
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: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Agyria (HP:0031882)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Fusion of the cerebellar hemispheres (HP:0006899)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Meningoencephalocele (HP:0006888)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Blindness (HP:0000618)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Blindness (HP:0000618)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Decreased thalamic volume (HP:0012695)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Peters anomaly (HP:0000659)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Cough (HP:0012735)
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 movement (HP:0100022)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Delayed speech and language development (HP:0000750)
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: Autistic behavior (HP:0000729)
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 the nervous system (HP:0000707)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Kinked brainstem (HP:0012793)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Myopathy (HP:0003198)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Myopathy (HP:0003198)
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: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
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: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Abnormality of the tongue muscle (HP:0040173)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
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: Hydrocephalus (HP:0000238)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Tip-toe gait (HP:0030051)
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: Abnormality of the voice (HP:0001608)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
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: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Cardiomyopathy (HP:0001638)
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: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Left ventricular hypertrophy (HP:0001712)
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: Strabismus (HP:0000486)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Megalocornea (HP:0000485)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Megalocornea (HP:0000485)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Achilles tendon contracture (HP:0001771)
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: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Cataract (HP:0000518)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Coloboma (HP:0000589)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Coloboma (HP:0000589)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)