Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.



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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: 31

HPO ID Term Frequency
HP:0000219 Thin upper lip vermilion Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000341 Narrow forehead Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0000851 Congenital hypothyroidism Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001321 Cerebellar hypoplasia Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002047 Malignant hyperthermia Very frequent (99-80%)
HP:0002079 Hypoplasia of the corpus callosum Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002265 Large fleshy ears Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0007052 Multifocal cerebral white matter abnormalities Very frequent (99-80%)
HP:0007642 Congenital stationary night blindness Very frequent (99-80%)
HP:0009891 Underdeveloped supraorbital ridges Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0012443 Abnormality of brain morphology Very frequent (99-80%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000377 Abnormality of the pinna Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002123 Generalized myoclonic seizures Frequent (79-30%)
HP:0011228 Horizontal eyebrow Frequent (79-30%)


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
TRAPPC9 trafficking protein particle complex 9 83696