TaoMedAI/RareMedData huggingface dataset:
Gene: LMNA
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: AR-CMT2B1; Charcot-Marie-Tooth disease type 2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Gene: LMNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Structural foot deformity (HP:0010219)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Joint contracture (HP:0034392)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Elbow contracture (HP:0034391)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Elbow contracture (HP:0034391)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Hip contracture (HP:0003273)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Hip contracture (HP:0003273)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Hip pain (HP:0030838)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Gene: LMNA
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Cyanosis (HP:0000961)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Cyanosis (HP:0000961)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Thin skin (HP:0000963)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Thin skin (HP:0000963)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Thin skin (HP:0000963)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Thin skin (HP:0000963)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Osteoporosis (HP:0000939)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Osteopenia (HP:0000938)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Osteopenia (HP:0000938)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Osteopenia (HP:0000938)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Sparse hair (HP:0008070)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Ichthyosis (HP:0008064)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Scaling skin (HP:0040189)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Gene: LMNA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome; Heart-hand syndrome, Slovenian type; Atriodigital dysplasia, Slovenian type (ORPHA:168796)
Gene: LMNA
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LMNA
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Increased facial adipose tissue (HP:0000287)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Increased facial adipose tissue (HP:0000287)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Increased facial adipose tissue (HP:0000287)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Retrognathia (HP:0000278)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Retrognathia (HP:0000278)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Full cheeks (HP:0000293)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Alopecia (HP:0001596)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Alopecia (HP:0001596)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Alopecia (HP:0001596)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Alopecia (HP:0001596)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Alopecia (HP:0001596)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Abnormal lymphocyte physiology (HP:0031409)
Associated disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Gene: LMNA
Phenotype: Narrow face (HP:0000275)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Malar flattening (HP:0000272)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome; Heart-hand syndrome, Slovenian type; Atriodigital dysplasia, Slovenian type (ORPHA:168796)
Gene: LMNA
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Gene: LMNA
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1A (OMIM:115200)
Gene: LMNA
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Arthralgia (HP:0002829)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Clinodactyly (HP:0030084)
Associated disease: HEART-HAND SYNDROME, SLOVENIAN TYPE (OMIM:610140)
Gene: LMNA
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Kyphosis (HP:0002808)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Overtubulated long bones (HP:0006391)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: High palate (HP:0000218)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: High palate (HP:0000218)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: High palate (HP:0000218)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Prominent umbilicus (HP:0001544)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Nocturnal lagophthalmos (HP:0030002)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Overweight (HP:0025502)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Meningioma (HP:0002858)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Death in infancy (HP:0001522)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Stiff skin (HP:0030053)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Growth delay (HP:0001510)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Growth delay (HP:0001510)
Associated disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Gene: LMNA
Phenotype: Obesity (HP:0001513)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Obesity (HP:0001513)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Obesity (HP:0001513)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Impacted tooth (HP:0011079)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: LMNA
Phenotype: Fatigue (HP:0012378)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Increased anterioposterior diameter of thorax (HP:0005253)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)