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Items: 3

1.

Prosopagnosia, hereditary

Prosopagnosia is the inability to recognize someone by the face alone, in the absence of sensory or intellectual impairment (Schwarzer et al., 2007). Almost all reported cases are of the acquired form, but there is evidence for a familial form as well (McConachie, 1976; de Haan, 1999; Galaburda and Duchaine, 2003; Kennerknecht et al., 2006). [from OMIM]

MedGen UID:
419809
Concept ID:
C2931455
Disease or Syndrome
2.

Leukodystrophy, hypomyelinating, 15

Hypomyelinating leukodystrophy-15 (HLD15) is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018) For a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

MedGen UID:
1633653
Concept ID:
C4693733
Disease or Syndrome
3.

Prosopagnosia

Inability to recognize faces of familiar persons. [from HPO]

MedGen UID:
65884
Concept ID:
C0234512
Mental or Behavioral Dysfunction
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