X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000939 Osteoporosis Frequent (79-30%)
HP:0001098 Abnormal fundus morphology Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001776 Bilateral talipes equinovarus Frequent (79-30%)
HP:0002059 Cerebral atrophy Frequent (79-30%)
HP:0002673 Coxa valga Frequent (79-30%)
HP:0005815 Supernumerary ribs Frequent (79-30%)
HP:0010499 Patellar subluxation Frequent (79-30%)
HP:0010781 Skin dimple Frequent (79-30%)
HP:0011064 Abnormal number of incisors Frequent (79-30%)
HP:0040019 Finger clinodactyly Frequent (79-30%)


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