Growth
- Obesity [SNOMEDCT: 414915002, 414916001] [ICD10CM: E66.9] [ICD9CM: 278.00] [UMLS: C4759928, C0028754 HPO: HP:0001513] [HPO: HP:0001513]
Skin
- Cyanosis [SNOMEDCT: 119419001, 3415004] [ICD10CM: R23.0] [ICD9CM: 782.5] [UMLS: C0010520 HPO: HP:0000961] [HPO: HP:0000961]
Neuro
- Somnolence [SNOMEDCT: 271782001, 79519003] [ICD10CM: R40.0] [UMLS: C2830004, C0013144 HPO: HP:0002329] [HPO: HP:0002329]
- Muscular twitching
Resp
- Periodic breathing [SNOMEDCT: 271824009] [ICD10CM: R06.3] [UMLS: C1313952 HPO: HP:0012196]
Inheritance
- Autosomal recessive [SNOMEDCT: 258211005] [UMLS: C0441748 HPO: HP:0000007] [HPO: HP:0000007]