TaoMedAI/RareMedData huggingface dataset:
Gene: DSE
Phenotype: Macrotia (HP:0000400)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Astigmatism (HP:0000483)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Strabismus (HP:0000486)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Protruding ear (HP:0000411)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Telecanthus (HP:0000506)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Glaucoma (HP:0000501)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Myopia (HP:0000545)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: POMT2
Phenotype: Poor speech (HP:0002465)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Cerebellar malformation (HP:0002438)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Limb-girdle muscular dystrophy type 2N; Autosomal recessive limb-girdle muscular dystrophy type 2N; POMT2-related LGMD R14; POMT2-related limb-girdle muscular dystrophy R14; LGMD type 2N; LGMD2N (ORPHA:206559)
Gene: POMT2
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Microtia (HP:0008551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
Gene: POMT2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
Gene: POMT2
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Motor delay (HP:0001270)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
Gene: POMT2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Limb-girdle muscular dystrophy type 2N; Autosomal recessive limb-girdle muscular dystrophy type 2N; POMT2-related LGMD R14; POMT2-related limb-girdle muscular dystrophy R14; LGMD type 2N; LGMD2N (ORPHA:206559)
Gene: POMT2
Phenotype: Areflexia (HP:0001284)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Areflexia (HP:0001284)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Seizure (HP:0001250)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Seizure (HP:0001250)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Seizure (HP:0001250)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Limb-girdle muscular dystrophy type 2N; Autosomal recessive limb-girdle muscular dystrophy type 2N; POMT2-related LGMD R14; POMT2-related limb-girdle muscular dystrophy R14; LGMD type 2N; LGMD2N (ORPHA:206559)
Gene: POMT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Inability to walk (HP:0002540)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Limb-girdle muscular dystrophy type 2N; Autosomal recessive limb-girdle muscular dystrophy type 2N; POMT2-related LGMD R14; POMT2-related limb-girdle muscular dystrophy R14; LGMD type 2N; LGMD2N (ORPHA:206559)
Gene: POMT2
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Micropenis (HP:0000054)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Micropenis (HP:0000054)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Limb-girdle muscular dystrophy type 2N; Autosomal recessive limb-girdle muscular dystrophy type 2N; POMT2-related LGMD R14; POMT2-related limb-girdle muscular dystrophy R14; LGMD type 2N; LGMD2N (ORPHA:206559)
Gene: POMT2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Absent speech (HP:0001344)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
Gene: POMT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Pachygyria (HP:0001302)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Pachygyria (HP:0001302)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Pachygyria (HP:0001302)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)