Phenotypes for disease #00198

20105 entries on 202 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     

Individual ID     
0000001748 - - Unknown - - stiff-person-like syndrome - - - - - María-Jesús Sobrido 00002834
0000001760 - - Isolated (sporadic) - - early onset, cerebellar and pyramidal signs - - - - - María-Jesús Sobrido 00002846
0000001817 - - Unknown - - - - - - - - María-Jesús Sobrido 00002903
0000001818 - - Unknown - - - - - - - - María-Jesús Sobrido 00002904
0000001844 - - Familial, autosomal dominant - - progressive hearing loss - - - - - Marcel Nelen 00002993
0000001845 - - Familial, autosomal dominant - - progressive hearing loss with comorbidity - - - - - Marcel Nelen 00002994
0000001846 - - Familial, autosomal recessive - - Usher type 2 - - - - - Marcel Nelen 00002995
0000001847 - - Familial, autosomal recessive - - Retinitis pigmentosa (RP) - - - - - Marcel Nelen 00002996
0000001848 - - Familial, autosomal dominant - - slowly progressive hearing loss - - - - - Marcel Nelen 00002997
0000001849 - - Familial, autosomal dominant - - low frequency hearing loss - - - - - Marcel Nelen 00002998
0000001850 - - Familial, autosomal recessive - - congenital discant severe hearing loss - - - - - Marcel Nelen 00002999
0000001851 - - Familial, autosomal dominant - - bowlshaped hearing loss - - - - - Marcel Nelen 00003000
0000001852 - - Familial, autosomal dominant - - progressive hearing loss - - - - - Marcel Nelen 00003001
0000001853 - - Isolated (sporadic) - - congenital, severe hearing loss - - - - - Marcel Nelen 00003002
0000001854 - - Familial, X-linked recessive - - sensorineuralprogressive hearing loss with flat audiogram - - - - - Marcel Nelen 00003003
0000001855 - - Isolated (sporadic) - - progressive midfreq bilateral hearing loss - - - - - Marcel Nelen 00003004
0000001856 - - Familial, autosomal dominant - - progressive, postlingual hearing loss - - - - - Marcel Nelen 00003005
0000001857 - - Isolated (sporadic) - - bowlshaped hearing loss - - - - - Marcel Nelen 00003006
0000001858 - - Familial, autosomal dominant - - high frequency hearing loss - - - - - Marcel Nelen 00003007
0000001859 - - Familial, autosomal recessive - - progressive hearing loss - - - - - Marcel Nelen 00003008
0000001864 - - Familial, autosomal recessive - - Ataxia & Epilepsy - - - - - Marcel Nelen 00003013
0000001870 - - Isolated (sporadic) - - PMR, epilepsy, myopathy, dystonia Leigh syndrome - - - - - Marcel Nelen 00003019
0000001871 - - Isolated (sporadic) - - PMR, autism, ataxia - - - - - Marcel Nelen 00003020
0000001872 - - Isolated (sporadic) - - Myopathy, psychiatric problems - - - - - Marcel Nelen 00003021
0000001873 - - Isolated (sporadic) - - exercise intolerance - - - - - Marcel Nelen 00003022
0000001874 - - Isolated (sporadic) - - PMR, Leigh syndrome - - - - - Marcel Nelen 00003023
0000001875 - - Isolated (sporadic) - - Myopathy - - - - - Marcel Nelen 00003024
0000001876 - - Isolated (sporadic) - - PMR, myopathy, Leigh syndrome - - - - - Marcel Nelen 00003025
0000001877 - - Familial, autosomal recessive - - CRC39 - - - - - Marcel Nelen 00003026
0000001881 - - Unknown 21y - - - - - - - Yulia Rogozhina 00003031
0000002085 - - Unknown 43y - normal sperm count (60M/ml); mild asthenozoospermia; FISH normal disomy counts - - - - - Johan den Dunnen 00003246
0000002839 - - Familial, autosomal recessive - - preterm, IUGR, delayed motor and speech development, high-pitched voice and recurrent chest infections - - - - - Fowzan Alkuraya 00004045
0000002840 - - Familial, autosomal recessive - - small and mal-aligned teeth, skin and joint laxity, and normal motor and cognitive development - - - - - Fowzan Alkuraya 00004047
0000002841 - - Familial, autosomal recessive - - characteristic facies, hypoplastic terminal phalanges, osteopenia, blind, profound global developmental delay, hypopigmented skin patches and talipes. Bifrontal subdural hygroma on brain MRI - - - - - Fowzan Alkuraya 00004048
0000002844 - - Familial, autosomal recessive - - characteristic facies, hypoplastic terminal phalanges, osteopenia, albinoid fundus, markedly impaired retinal function, recurrent infections, PDA, persistent anemia (Hb 8.3 g/dl) with anisopoikilocytosis. MRI showed increase white matter signal and hypogenesis of corpus callosum - - - - - Fowzan Alkuraya 00004051
0000002846 - - Familial, autosomal recessive - - global developmental delay, bilateral hip dysplasia, ectopic kidney, PDA, retinoblastoma and brain glioma, normal blood indices and bone marrow - - - - - Fowzan Alkuraya 00004052
0000002848 - - Familial, autosomal recessive - - characteristic Seckel facies, severe kyphoscoliosis leading to spinal cord compression and paraplegia, global developmental delay and intellectual disability - - - - - Fowzan Alkuraya 00004055
0000002906 - - Unknown - - - - - - - - Johan den Dunnen 00004166
0000002907 - - Unknown - - - - - - - - Johan den Dunnen 00004167
0000010366 - - Familial, autosomal recessive - - psycomotor regression, microcephalia - - - - - Daniele Ghezzi 00011677
0000010367 - - Familial, autosomal recessive - - Mitochondrial disorder - - - - - Daniele Ghezzi 00011679
0000014767 - - Unknown - - additional phenotype data available - - - - - Stefan Aretz 00016080
0000014800 - - Familial, autosomal dominant 37y - Developmental delay, learning disability, bipolar disorder, anxiety disorder, epilepsy - - - - - Christian Schaaf 00016128
0000014804 - - Unknown - - normal ears, large cheeks, possible hypoplasia angle mandible - - - - - Johan den Dunnen 00016209
0000014891 - - Familial, autosomal dominant - - alcoholism, drug addiction, abusive behaviors to family members; multiple family members with alcoholism - - - - - Christian Schaaf 00016300
0000014921 - - Familial, autosomal recessive - - atypical metaphyseal anadysplasia, different clinical features and autosomal recessive mode of inheritance - - - - - Dong Li 00016315
0000014937 - - Unknown - - familial febrile seizures - - - - - Lab Zuffardi 00016324
0000014938 - - Unknown - - benign childhood epilepsy with centro-temporal spikes (BCECTS) - - - - - Lab Zuffardi 00016325
0000014939 - - Unknown - - familial febrile seizures - - - - - Lab Zuffardi 00016326
0000015026 - - Isolated (sporadic) - - Congenital Generalized Lipodystrophy type 2 - - - - - Sergio Piñeiro 00016424
0000015029 - - Unknown - - Congenital Generalized Lipodystrophy type 2 - - - - - Sergio Piñeiro 00016427
0000015030 - - Unknown - - Congenital Generalized Lipodystrophy type 2 - - - - - Sergio Piñeiro 00016428
0000015031 - - Unknown - - Congenital Generalized Lipodystrophy type 2 - - - - - Sergio Piñeiro 00016429
0000015212 - - Isolated (sporadic) 01y06m - 18m-no words, no sitting, hypotonia, failure to thrive, low-set ears, esotropia, upslanting palpebral fissures, micrognathia, flat nasal bridge, laryngomalacia, obstructive sleep apnea - - - - - Marianne Vos (LOVD-team) 00016586
0000015213 - - Isolated (sporadic) 04y - 4y-two words; 19m-sitting; 24m-walking; hypotonia, failure to thrive, protuberant ears, upslanting palpebral fissures, flat nasal bridge, obstructive sleep apnea - - - - - Marianne Vos (LOVD-team) 00016587
0000015214 - - Isolated (sporadic) 08y - mild intellectual disability; 1y-first words; persistent speech therapy; 9m-sitting; 18m-walking; hypotonia, failure to thrive, protuberant low-set ears, small earlobes, hypertelorism, downslanting palpebral fissures, mild ptosis, micrognathia, laryngomalacia, obstructive sleep apnea - - - - - Marianne Vos (LOVD-team) 00016588
0000015215 - - Isolated (sporadic) 11y - intellectual disability, (moderate to severe), no words, noncommunicating autism; 15m-sitting; no independent ambulation, hypotonia, failure to thrive, upturned earlobes, hypertelorism, esotropia, flat nasal bridge, suspected tracheomalacia in infancy, history of snoring; no macrodontia, no skeletal defects, nor other features of KGB syndrome - - - - - Marianne Vos (LOVD-team) 00016589
0000015223 - - Isolated (sporadic) 35y - Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia +7 oculus uterque, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, abstent anterior cruciate ligaments knee, Camptodactyly, Clinodactyly Digits III–V, Dimples over large joints, Exertional dyspnea, Constriction of urethra, FEV1/FVC 60%/53%, Increased muscle tone, Tendon reflexes Weak and absent in knees and ankles, Normal intelligence, Musculoskeletal pain major problem, Altered pain sensation Possibly as child - - - - - Marianne Vos (LOVD-team) 00016696
0000015225 - - Isolated (sporadic) 05y - Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Blepharophimosis, Ptosis, Hypermetropia +8/+10, Hunched anteverted shoulders, Likely Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Probably Absent ACL (knee), Camptodactyly, Clinodactyly Digit V, Club feet (left), Dimples over large joints, Exertional dyspnea, Weak Tendon reflexes, Normal intelligence, High pain threshold suspected - - - - - Marianne Vos (LOVD-team) 00016697
0000015228 - - Isolated (sporadic) 38y - Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia, Duane anomaly, Abnormal retinal pigmentation, Macular retinal folds, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Camptodactyly, Clinodactyly, Exertional dyspnea, FEV1/FVC 28%/26%, Increased muscle tone, Tendon reflexes weak, Normal intelligence, Hearing loss - - - - - Marianne Vos (LOVD-team) 00016703
0000016191 - - Familial, autosomal recessive - - intellectual disability syndrome of congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. - - - - - Ohad S Birk 00017840
0000016196 - - Isolated (sporadic) 33y - see paper; 33y-forgetfulness, emotional lability, aggressive outbursts34y-unable to recognise family members, incontinence, severe non-fluent expressive dysphasia, rigidity, hyperreflexia, extensor plantars, palmomental/grasp reflexes; EEG generalised slow activity; MRI moderate frontotemporal cortical atrophy In the following months his walking deteriorated to a slow and stiff gait, he exhibited an exaggerated startle and he died 2 years after disease onset - - - - - Johan den Dunnen 00017844
0000016222 - - Isolated (sporadic) - - - - - - - - Byung Yoon Choi 00017864
0000016223 - - Isolated (sporadic) - - the proband and his brother are affected from a syndrome that comprises: tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly - - - - - Periklis Makrythanasis 00016413
0000017012 - - Familial, autosomal dominant - - - - - - - - Elisabet Ars Criach 00018451
0000017013 - - Familial, autosomal dominant - - - - - - - - Elisabet Ars Criach 00018844
0000017114 - - Unknown - - GCD atypical (hanoi type of GCD) - - - - - Daniel Schorderet 00019124
0000017122 - - Unknown - - severe form of juvenile CDG - - - - - Daniel Schorderet 00019132
0000017126 - - Unknown - - FVGD (=French variant of granular dystrophy) - - - - - Daniel Schorderet 00019136
0000017129 - - Unknown - - CDL deep/IV/late onset - - - - - Daniel Schorderet 00019139
0000017131 - - Unknown - - CD unclassified - - - - - Daniel Schorderet 00019141
0000017135 - - Unknown - - CDL atypique - - - - - Daniel Schorderet 00019145
0000017136 - - Unknown - - MDCD (=Map dot corneal dystrophy) - - - - - Daniel Schorderet 00019146
0000017143 - - Unknown - - CDL deep/IV/late onset - - - - - Daniel Schorderet 00019152
0000017145 - - Unknown - - CDL - - - - - Daniel Schorderet 00019154
0000017154 - - Unknown - - CDL variant - - - - - Daniel Schorderet 00019161
0000017155 - - Unknown - - CDL deep type IV - - - - - Daniel Schorderet 00019162
0000017156 - - Unknown - - CDL late onset - - - - - Daniel Schorderet 00019163
0000017158 - - Unknown - - polymorphic corneal amyloïdosis - - - - - Daniel Schorderet 00019165
0000017160 - - Unknown - - CDL stromal atypical - - - - - Daniel Schorderet 00019167
0000017165 - - Unknown - - CDL atypical: polymorphic corneal amyloïdosis - - - - - Daniel Schorderet 00019171
0000017167 - - Unknown - - GCD atypical - - - - - Daniel Schorderet 00019173
0000017175 - - Unknown - - CDG severe - - - - - Daniel Schorderet 00019180
0000017176 - - Unknown - - late onset CD with deep stromal opacities--> deep CDL? - - - - - Daniel Schorderet 00019181
0000017177 - - Unknown - - MDCD like (=Map dot corneal dystrophy) - - - - - Daniel Schorderet 00019182
0000017181 - - Unknown - - CDL deep - - - - - Daniel Schorderet 00019186
0000017182 - - Unknown - - CDL (of late onset) - - - - - Daniel Schorderet 00019187
0000017183 - - Unknown - - CDL variant - - - - - Daniel Schorderet 00019188
0000017184 - - Unknown - - CDA variant - - - - - Daniel Schorderet 00019189
0000017192 - - Unknown - - CDL atypical - - - - - Daniel Schorderet 00019196
0000017193 - - Unknown - - Salzmann's nodular degeneration - - - - - Daniel Schorderet 00019197
0000017194 - - Unknown - - late onset variant CDL - - - - - Daniel Schorderet 00019198
0000017195 - - Unknown - - CDL atypical - - - - - Daniel Schorderet 00019199
0000017196 - - Unknown - - CDL atypical - - - - - Daniel Schorderet 00019200
0000017201 - - Unknown - - early-onset of superficial keratopathy - - - - - Daniel Schorderet 00019204
0000017202 - - Unknown - - GCD atypical - - - - - Daniel Schorderet 00019205
0000017209 - - Unknown - - CDL deep - - - - - Daniel Schorderet 00019210
0000017210 - - Unknown - - MDCD (=Map dot corneal dystrophy) - - - - - Daniel Schorderet 00019211
0000017256 - - Unknown - - - - - - - - William (Bill) Oetting 00019455
0000017296 - - Familial, X-linked recessive - - ARSA pseudodeficiency - - - - - Johan den Dunnen 00019494
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