Amish lethal microcephaly

A very rare syndrome characterized by extreme microcephaly and early death, within the first year.



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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: 25

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000340 Sloping forehead Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000737 Irritability Very frequent (99-80%)
HP:0001320 Cerebellar vermis hypoplasia Very frequent (99-80%)
HP:0001522 Death in infancy Very frequent (99-80%)
HP:0001942 Metabolic acidosis Very frequent (99-80%)
HP:0001992 Organic aciduria Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0000939 Osteoporosis Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001274 Agenesis of corpus callosum Frequent (79-30%)
HP:0001339 Lissencephaly Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002414 Spina bifida Frequent (79-30%)
HP:0002509 Limb hypertonia Frequent (79-30%)
HP:0005968 Temperature instability Frequent (79-30%)
HP:0000185 Cleft soft palate Occasional (29-5%)
HP:0001376 Limitation of joint mobility Occasional (29-5%)
HP:0001558 Decreased fetal movement Occasional (29-5%)
HP:0002069 Generalized tonic-clonic seizures Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0004331 Decreased skull ossification 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
SLC25A19 solute carrier family 25 member 19 60386