TaoMedAI/RareMedData huggingface dataset:
Gene: LMNA
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Abnormal nasal tip morphology (HP:0000436)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Pes planus (HP:0001763)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Hammertoe (HP:0001765)
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: Choanal atresia (HP:0000453)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: FPLD2; Familial partial lipodystrophy type 2; Dunnigan syndrome; Familial partial lipodystrophy, Dunnigan type (ORPHA:2348)
Gene: LMNA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome; Heart-hand syndrome, Slovenian type; Atriodigital dysplasia, Slovenian type (ORPHA:168796)
Gene: LMNA
Phenotype: Abnormal foot morphology (HP:0001760)
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: Talipes equinovarus (HP:0001762)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cardiogenital syndrome; Malouf syndrome; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Najjar syndrome (ORPHA:2229)
Gene: LMNA
Phenotype: Pes cavus (HP:0001761)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Pes cavus (HP:0001761)
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: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Gene: LMNA
Phenotype: Early young adult onset (HP:0025708)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: High-frequency sensorineural hearing impairment (HP:0001757)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia of the clavicles (HP:0006710)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Aplasia/Hypoplasia of the clavicles (HP:0006710)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Craniofacial disproportion (HP:0005461)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Gene: LMNA
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Gene: LMNA
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Papillary renal cell carcinoma (HP:0006766)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Cataract (HP:0000518)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Proptosis (HP:0000520)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Proptosis (HP:0000520)
Associated disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Gene: LMNA
Phenotype: Proptosis (HP:0000520)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Proptosis (HP:0000520)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Weight loss (HP:0001824)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Telecanthus (HP:0000506)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: LMNA
Phenotype: Ptosis (HP:0000508)
Associated disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Gene: LMNA
Phenotype: Ptosis (HP:0000508)
Associated disease: Cardiogenital syndrome; Malouf syndrome; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Najjar syndrome (ORPHA:2229)
Gene: LMNA
Phenotype: Ptosis (HP:0000508)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: LMNA
Phenotype: Fragile nails (HP:0001808)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNA
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Albuminuria (HP:0012592)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Gene: LMNA
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: LMNA
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: LCPS; LMNA-related cardiocutaneous progeria syndrome (ORPHA:363618)
Gene: LMNA
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Gene: LMNA
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Gene: LMNA
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMNA
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Gene: LMNA
Phenotype: Talipes (HP:0001883)
Associated disease: L-CMD; LMNA-related congenital muscular dystrophy; Congenital muscular dystrophy due to LMNA mutation (ORPHA:157973)
Gene: LMNA
Phenotype: Talipes (HP:0001883)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Gene: LMNA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMNA
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Atypical progeroid syndrome; Atypical Werner syndrome (ORPHA:79474)
Gene: LMNB1
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: LMNB1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Head titubation (HP:0002599)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Ataxia (HP:0001251)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Spasticity (HP:0001257)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Atrophy/Degeneration affecting the cerebrum (HP:0007369)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Urinary retention (HP:0000016)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Decreased sweating due to autonomic dysfunction (HP:0007480)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Absent speech (HP:0001344)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Tremor (HP:0001337)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Pachygyria (HP:0001302)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Constipation (HP:0002019)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Myalgia (HP:0003326)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Temperature instability (HP:0005968)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Spastic gait (HP:0002064)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Hypothermia (HP:0002045)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Abnormal cerebellar peduncle morphology (HP:0011931)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Clonus (HP:0002169)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Action tremor (HP:0002345)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: LMNB1
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: LMNB1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Gene: LMNB1
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Gene: LMNB1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: Adult-onset autosomal dominant leukodystrophy; Adult-onset autosomal dominant demyelinating leukodystrophy; ADLD (ORPHA:99027)
Gene: LMNB1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)