TaoMedAI/RareMedData huggingface dataset:
Gene: POMT2
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: POMT2
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: POMT2
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: POMT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
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: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
Gene: POMT2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
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: POMT2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
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: POMT2
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: POMT2
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
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: Hydrocephalus (HP:0000238)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Death in infancy (HP:0001522)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
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: POMT2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
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: POMT2
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
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: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Dilated cardiomyopathy (HP:0001644)
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: Partial absence of cerebellar vermis (HP:0002951)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Strabismus (HP:0000486)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Strabismus (HP:0000486)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Megalocornea (HP:0000485)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Megalocornea (HP:0000485)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
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: POMT2
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
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: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Cataract (HP:0000518)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: POMT2
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Coloboma (HP:0000589)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Coloboma (HP:0000589)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMT2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Myopia (HP:0000545)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMT2
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: POMT2
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: POMT2
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMT2
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Gene: POMT2
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Gene: SLC25A24
Phenotype: Syndactyly (HP:0001159)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Aplasia/Hypoplasia of the nasal bone (HP:0010940)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: Petty syndrome; Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Gene: SLC25A24
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; GCM syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome (ORPHA:2095)
Gene: SLC25A24
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Absent nipple (HP:0002561)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Neonatal death (HP:0003811)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Small scrotum (HP:0000046)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Micropenis (HP:0000054)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC25A24
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC25A24
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Gene: SLC25A24
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)