Phenotypes associated with the disease hypotonia-failure to thrive-microcephaly syndrome (OMIM:614037, an entry in Online Mendelian Inheritance in Man):
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. (PMID:9820300)
- Failure to thrive in infancy (HP:0001531, a Human Phenotype Ontology term). Evidence: PCS. (PMID:9820300)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. (PMID:9820300)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. (PMID:9820300)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:9820300)
- Death in infancy (HP:0001522, a Human Phenotype Ontology term): Death within the first 24 months of life. Evidence: PCS. (PMID:9820300)
- Reduced circulating leukotriene C4 concentration (HP:0030390, a Human Phenotype Ontology term): An abnormally decreased concentration of leukotriene C4 in the blood circulation. Evidence: PCS. (PMID:9820300)