Severe intellectual disability and progressive spastic paraplegia

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0007020 Progressive spastic paraplegia Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000297 Facial hypotonia Frequent (79-30%)
HP:0000414 Bulbous nose Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001272 Cerebellar atrophy Frequent (79-30%)
HP:0001332 Dystonia Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002307 Drooling Frequent (79-30%)
HP:0002355 Difficulty walking Frequent (79-30%)
HP:0002464 Spastic dysarthria Frequent (79-30%)
HP:0002465 Poor speech Frequent (79-30%)
HP:0002515 Waddling gait Frequent (79-30%)
HP:0003487 Babinski sign Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0000154 Wide mouth Occasional (29-5%)
HP:0000218 High palate Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000341 Narrow forehead Occasional (29-5%)
HP:0000733 Stereotypy Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002518 Abnormality of the periventricular white matter Occasional (29-5%)
HP:0010803 Everted upper lip vermilion Occasional (29-5%)
HP:0025502 Overweight Occasional (29-5%)
HP:0100962 Shyness Occasional (29-5%)
HP:0000486 Strabismus Very rare (4-1%)
HP:0000646 Amblyopia Very rare (4-1%)
HP:0002761 Generalized joint laxity Very rare (4-1%)
HP:0002816 Genu recurvatum Very rare (4-1%)
HP:0008807 Acetabular dysplasia Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
AP4M1 adaptor related protein complex 4 subunit mu 1 9179
AP4E1 adaptor related protein complex 4 subunit epsilon 1 23431
AP4B1 adaptor related protein complex 4 subunit beta 1 10717
AP4S1 adaptor related protein complex 4 subunit sigma 1 11154