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Items: 4

1.

Combined oxidative phosphorylation defect type 15

A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22. [from SNOMEDCT_US]

MedGen UID:
1646555
Concept ID:
C4706313
Disease or Syndrome
2.

Hamartoma of hypothalamus

Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240). [from OMIM]

MedGen UID:
137970
Concept ID:
C0342418
Congenital Abnormality; Finding
3.

Parasomnia, sleepwalking type

Sleepwalking (SW) is a disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep (American Academy of Sleep Medicine, 2005). It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states (summary by Hublin and Kaprio, 2003). Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%) (Hublin et al., 1997). [from OMIM]

MedGen UID:
462713
Concept ID:
C3151363
Disease or Syndrome
4.

Sleep terror

Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep. [from HPO]

MedGen UID:
52373
Concept ID:
C0037320
Mental or Behavioral Dysfunction
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