| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.2%) |
10463356 |
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? Auer-Grumbach M, Fazekas F, Radner H, Irmler A, Strasser-Fuchs S, Hartung HP. J Neurol. 1999;246(7):556-61. |
| Dysarthria Small hand | ||
| Adult Biopsy Corpus Callosum Females Hand Homo sapiens Magnetic Resonance Imaging Motor Neuron Disease Spastic Paraplegia, Hereditary Syndrome | ||
| 2 (36.7%) |
1261070 |
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome. Neuhauser G, Wiffler C, Opitz JM. Clin Genet. 1976;9(3):315-23. |
| Spastic diplegia Drooling | ||
| Child Females Growth Disorders Homo sapiens Intellectual Disability Male Muscle Spasticity Muscular Dystrophy Ohio Paraplegia Religion Syndrome | ||
| 3 (17.5%) |
28875386 |
Novel SPG20 mutation in an extended family with Troyer syndrome. Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F. Metab Brain Dis. 2017;32(6):2155-2159. |
| Spastic paraparesis | ||
| SPART | ||
| c|SUB|G|1324|C p|SUB|A|442|P | ||
| Cell Cycle Proteins Child Child, Preschool Females Homo sapiens Male Mutation Proteins Spastic Paraplegia, Hereditary | ||
| 3 (17.5%) |
28679690 (5495031) |
SPG20 mutation in three siblings with familial hereditary spastic paraplegia. Dardour L, Roelens F, Race V, Souche E, Holvoet M, Devriendt K. Cold Spring Harb Mol Case Stud. 2017;3(4):. |
| Intellectual disability Spasticity | ||
| SPART | ||
| c|SUB|C|1369|T;RS#:200373703 p|SUB|R|457|*;RS#:200373703 | ||
| Cell Cycle Proteins Child Codon, Nonsense Exons Females Homo sapiens Intellectual Disability Male Mutation Proteins Sibling Spastic Paraplegia, Hereditary Young Adult | ||
| 3 (17.5%) |
26003402 |
Recurrent null mutation in SPG20 leads to Troyer syndrome. Tawamie H, Wohlleber E, Uebe S, Schmal C, Nothen MM, Abou Jamra R. Mol Cell Probes. 2015;29(5):315-8. |
| Intellectual disability Spastic paraplegia | ||
| SPART | ||
| c|DEL|1110|A c|DEL|364_365|TA rs775736341 | ||
| Adult Cell Cycle Proteins Child DNA Mutational Analysis Females Gene Deletion Genetic Predisposition to Disease Homo sapiens Male Proteins Spastic Paraplegia, Hereditary | ||
| 6 (4.0%) |
21171093 |
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families. Rainier S, Albers JW, Dyck PJ, Eldevik OP, Wilcock S, Richardson RJ, Fink JK. Muscle Nerve. 2011;43(1):19-25. |
| Short stature | ||
| PNPLA6 | ||
| Adult Aged, 80 and over Carboxylic Ester Hydrolases DNA Mutational Analysis Females Genetic Predisposition to Disease Genotype Homo sapiens Male Middle Aged Motor Neuron Disease Mutation Peripheral Nervous System Diseases |
Total: 52
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0000924 | Abnormality of the skeletal system | Frequent (79-30%) |
| HP:0001155 | Abnormality of the hand | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001260 | Dysarthria | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001317 | Abnormal cerebellum morphology | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0001347 | Hyperreflexia | Frequent (79-30%) |
| HP:0001350 | Slurred speech | Frequent (79-30%) |
| HP:0001382 | Joint hypermobility | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001760 | Abnormality of the foot | Frequent (79-30%) |
| HP:0002015 | Dysphagia | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0002313 | Spastic paraparesis | Frequent (79-30%) |
| HP:0002464 | Spastic dysarthria | Frequent (79-30%) |
| HP:0002495 | Impaired vibratory sensation | Frequent (79-30%) |
| HP:0003202 | Skeletal muscle atrophy | Frequent (79-30%) |
| HP:0003484 | Upper limb muscle weakness | Frequent (79-30%) |
| HP:0003487 | Babinski sign | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005922 | Abnormal hand morphology | Frequent (79-30%) |
| HP:0011094 | Overbite | Frequent (79-30%) |
| HP:0012443 | Abnormality of brain morphology | Frequent (79-30%) |
| HP:0100518 | Dysuria | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000448 | Prominent nose | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000709 | Psychosis | Occasional (29-5%) |
| HP:0000712 | Emotional lability | Occasional (29-5%) |
| HP:0000738 | Hallucinations | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0001172 | Abnormal thumb morphology | Occasional (29-5%) |
| HP:0001609 | Hoarse voice | Occasional (29-5%) |
| HP:0001761 | Pes cavus | Occasional (29-5%) |
| HP:0002064 | Spastic gait | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0003693 | Distal amyotrophy | Occasional (29-5%) |
| HP:0005288 | Abnormality of the nares | Occasional (29-5%) |
| HP:0011098 | Speech apraxia | Occasional (29-5%) |
| HP:0011448 | Ankle clonus | Occasional (29-5%) |
| HP:0025269 | Panic attack | Occasional (29-5%) |
| HP:0030084 | Clinodactyly | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Very rare (4-1%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 2 |
| HP:0001260 | Dysarthria | 1 |
| HP:0001264 | Spastic diplegia | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0200055 | Small hand | 1 |