Table 1.

Molecular and clinical phenotypes of 4 individuals with truncating MAGEL2 mutations.

	Patient #1	Patient #2	Patient #3	Patient #4	Previous publications2,4,5
Sex	male	male	male	female
Disease onset age	0 months	0 months	0 months	19 months
Molecular diagnosis
Mutation Nucleotide	c.1996dupC	c.1996dupC	c.2217delC	c.3449_3450delTT
Protein	p.Gln666ProfsTer47	p.Gln666ProfsTer47	p.Ser739Ter	p.Phe1150TrpfsTer4
Mutation reported previously	Reported	Reported	Not reported	Not reported
Inheritance	Paternal	De novo	De novo	Paternal
Prenatally problem
History of polyhydramnios			•		N/A
Postnatal difficulties
Neonatal hypotonia	•	•	•		97%
Respiratory distress requiring mechanical ventilator	•	•	•		55%
Feeding problems		•			84%
Clinical phenotypes
Facial dysmorphism	•	•	•	•	81%
Joint contractures	•	•	•		88%
Macrocephaly				•	N/A
Microcephaly	•	•			N/A
Brain MR abnormality	•	•			N/A
Developmental problems
Central or sleep apnea	•	•			76%
Gastroesophageal reflux		•			57%
Chronic constipation			•		71%
Failure to thrive	•	•	•		N/A
Delayed development/Intellectual disability	•	•	•	•	100%
Autistic features	•		•		78%
Seizures			•		33%