Table 1.

Clinical Phenotypes of Both Probands Encoded According to the Human Phenotype Ontology (HPO)

Characteristics and Symptoms	HPO ID	Proband 1	Proband 2
Mutation in UQCRFS1 (NM_006003)	NA	homozygous c.215-1G>C	c.41T>A | c.610C>T
Effect on translation (NP_005994)	NA	p.Val72_Thr81del10	p.Val14Asp | p.Arg204∗
Origin	NA	Afghanistan	Germany
Gender	NA	male	male
Age at onset	NA	congenital	congenital
Age at last assessment	NA	3.5 months	9 years
Age at death	NA	3.5 months	NA
Fetal Development
Intrauterine growth retardation (<P10)	HP:0001511	-	+
Low birth weight	HP:0001518	- (59th percentile)	+ (3rd percentile)
Fetal bradycardia	HP:0001662	+	+
Perinatal Development
Persistent fetal circulation	HP:0011726	ND	+
Hypothermia	HP:0002045	+	ND
Feeding difficulties	HP:0008872	+	+
Hyperventilation	HP:0002883	+	ND
Metabolism
Lactic acidosis [highest level]	HP:0003128	24 mmol/l	15 mmol/l
Metabolic crises during febrile infections	HP:0004897	ND	+
Cardiovascular System
Hypertrophic cardiomyopathy	HP:0001639	+	+
Ventricular septal defect	HP:0001629	-	+
Persistent left superior vena cava	HP:0005301	-	+
Pericardial effusion	HP:0001698	+	ND
Motor System
Muscular hypotonia	HP:0001252	(+)	+
Muscular weakness	HP:0001324	+	+
Delayed motor development	HP:0001270	ND	+
Elevated creatine kinase levels [highest]	HP:0003236	>5,000 U/l	ND
Hematologic System
Thrombocytopenia	HP:0001873	(+)	+
Normochromic anemia	HP:0001895	ND	+
Abnormality of blood coagulation	HP:0001928	+	ND
Visual System
Bilateral papilledema	HP:0001085	ND	+
Skin and Appendages
Alopecia totalis	HP:0007418	+	+
Gastrointestinal System
Cholelithiasis	HP:0001081	+	ND

NA—not applicable, ND—not done or no information available