Severe X-linked intellectual disability, Gustavson type

Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.



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

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0008850 Severe postnatal growth retardation Very frequent (99-80%)
HP:0012715 Profound hearing impairment Very frequent (99-80%)
HP:0000618 Blindness Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001518 Small for gestational age Frequent (79-30%)
HP:0002198 Dilated fourth ventricle Frequent (79-30%)
HP:0002788 Recurrent upper respiratory tract infections Frequent (79-30%)
HP:0005486 Small fontanelle Frequent (79-30%)
HP:0005949 Apneic episodes in infancy Frequent (79-30%)
HP:0010864 Intellectual disability, severe Frequent (79-30%)
HP:0012444 Brain atrophy Frequent (79-30%)
HP:0040288 Nasogastric tube feeding Frequent (79-30%)
HP:0000076 Vesicoureteral reflux Occasional (29-5%)
HP:0000239 Large fontanelles Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000377 Abnormality of the pinna Occasional (29-5%)
HP:0000400 Macrotia Occasional (29-5%)
HP:0001199 Triphalangeal thumb Occasional (29-5%)
HP:0001305 Dandy-Walker malformation Occasional (29-5%)
HP:0001321 Cerebellar hypoplasia Occasional (29-5%)
HP:0001336 Myoclonus Occasional (29-5%)
HP:0001374 Congenital hip dislocation Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001838 Rocker bottom foot Occasional (29-5%)
HP:0001848 Calcaneovalgus deformity Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)
HP:0005781 Contractures of the large joints Occasional (29-5%)
HP:0006829 Severe muscular hypotonia Occasional (29-5%)
HP:0006956 Dilation of lateral ventricles Occasional (29-5%)
HP:0008110 Equinovarus deformity Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID