Ossification anomalies-psychomotor developmental delay syndrome

Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.



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

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0000774 Narrow chest Frequent (79-30%)
HP:0000940 Abnormal diaphysis morphology Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0003016 Metaphyseal widening Frequent (79-30%)
HP:0006462 Generalized bone demineralization Frequent (79-30%)
HP:0011849 Abnormal bone ossification Frequent (79-30%)
HP:0100774 Hyperostosis Frequent (79-30%)
HP:0000239 Large fontanelles Occasional (29-5%)
HP:0000325 Triangular face Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000586 Shallow orbits Occasional (29-5%)
HP:0000765 Abnormality of the thorax Occasional (29-5%)
HP:0000883 Thin ribs Occasional (29-5%)
HP:0001344 Absent speech Occasional (29-5%)
HP:0002015 Dysphagia Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002100 Recurrent aspiration pneumonia Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002194 Delayed gross motor development Occasional (29-5%)
HP:0003100 Slender long bone Occasional (29-5%)
HP:0003199 Decreased muscle mass Occasional (29-5%)
HP:0003244 Penile hypospadias Occasional (29-5%)
HP:0003312 Abnormal form of the vertebral bodies Occasional (29-5%)
HP:0008897 Postnatal growth retardation Occasional (29-5%)
HP:0009237 Short 5th finger Occasional (29-5%)
HP:0009875 Triangular shaped distal phalanges of the hand Occasional (29-5%)
HP:0009882 Short distal phalanx of finger Occasional (29-5%)
HP:0031207 Hepatic hemangioma Occasional (29-5%)
HP:0100759 Clubbing of fingers 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