Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome




Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001290 Generalized hypotonia Very frequent (99-80%)
HP:0000307 Pointed chin Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000574 Thick eyebrow Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0007874 Almond-shaped palpebral fissure Frequent (79-30%)
HP:0010648 Dermal translucency Frequent (79-30%)
HP:0011098 Speech apraxia Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0012393 Allergy Frequent (79-30%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000729 Autistic behavior Occasional (29-5%)
HP:0000733 Stereotypy Occasional (29-5%)
HP:0001211 Abnormal fingertip morphology Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0002721 Immunodeficiency Occasional (29-5%)
HP:0008897 Postnatal growth retardation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
CHD1 chromodomain helicase DNA binding protein 1 1105