Table 1.

Clinical features

HPO term	Patient 1—Female, 12 yr	Patient 2—Male, 6 yr
Decreased fetal movement	+	+
Polyhydramnios	unk	+
Arthrogryposis multiplex congenita	+	+
Skeletal muscle atrophy	+	+
Muscle weakness	+	+
Recurrent fractures	+	+
Thoracolumbar kyphoscoliosis	+	−
Feeding difficulties	+	+
Macrocephaly	+	+
Frontal bossing	+	−
Abnormality of the ear	+	−
Open mouth	+	+
Downturned corners of mouth	+	+
Tapered fingers	+	+
EEG abnormality	+	+
Seizures	+	+
Cerebral cortical atrophy	+	+
Weak cry	unk	+
Absent speech	+	+
Left ventricular hypertrophy	+	−
Mitral regurgitation	+	−

Human Phenotype Ontology (HPO) terms are listed with an indication of whether each patient was positive (+), negative (−), or unknown (unk) for each feature.