- Calcinosis (HP:0003761): Formation of calcium deposits in any soft tissue. Evidence: IEA. (OMIM:208155)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: IEA. (OMIM:208155)
- Excessive salivation (HP:0003781): Excessive production of saliva. Evidence: IEA. (OMIM:208155)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: IEA. (OMIM:208155)
- Autosomal recessive inheritance (HP:0000007): 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: IEA. (OMIM:208155)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. (OMIM:208155)
- Temperature instability (HP:0005968): Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. Evidence: IEA. (OMIM:208155)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: IEA. (OMIM:208155)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: IEA. (OMIM:208155)
- Whistling appearance (HP:0000346): An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. Evidence: IEA. (OMIM:208155)
These phenotypes are associated with the disease arthrogryposis multiplex congenita-whistling face syndrome (OMIM:208155).