TaoMedAI/RareMedData huggingface dataset:
Gene: COLEC10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Scoliosis (HP:0002650)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Cleft palate (HP:0000175)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Tessier cleft (HP:0002006)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Short stature (HP:0004322)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Prominent coccyx (HP:0040016)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Sacral dimple (HP:0000960)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Caudal appendage (HP:0002825)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Clinodactyly (HP:0030084)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Diastasis recti (HP:0001540)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Diastasis recti (HP:0001540)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Auricular pit (HP:0030025)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Growth delay (HP:0001510)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Low-set ears (HP:0000369)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Corneal opacity (HP:0007957)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Telecanthus (HP:0000506)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Ptosis (HP:0000508)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Ptosis (HP:0000508)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC10
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: 3MC SYNDROME 3 (OMIM:248340)
Gene: COLEC10
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: POMT1
Phenotype: Poor speech (HP:0002465)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Limb-girdle muscle atrophy (HP:0003797)
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 malformation (HP:0002438)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Microtia (HP:0008551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Thigh hypertrophy (HP:0003733)
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 pseudohypertrophy (HP:0003707)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Proximal muscle weakness (HP:0003701)
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 amyotrophy (HP:0003700)
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: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Generalized hypotonia (HP:0001290)
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: Hypertonia (HP:0001276)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Cerebellar atrophy (HP:0001272)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Motor delay (HP:0001270)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Motor delay (HP:0001270)
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: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Gait disturbance (HP:0001288)
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: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Gait disturbance (HP:0001288)
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: Areflexia (HP:0001284)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Seizure (HP:0001250)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Seizure (HP:0001250)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Seizure (HP:0001250)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Intellectual disability (HP:0001249)
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 (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Intellectual disability (HP:0001249)
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: Hyporeflexia (HP:0001265)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
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: POMT1
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Inability to walk (HP:0002540)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
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: POMT1
Phenotype: Waddling gait (HP:0002515)
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: Loss of ambulation (HP:0002505)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
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: Type 1 muscle fiber predominance (HP:0003803)
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: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Micropenis (HP:0000054)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Facial diplegia (HP:0001349)
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: Hyperreflexia (HP:0001347)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Absent speech (HP:0001344)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT1
Phenotype: Absent speech (HP:0001344)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)
Gene: POMT1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
Gene: POMT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 (OMIM:613155)