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Items: 3

1.

Galactosylceramide beta-galactosidase deficiency

Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course. [from GeneReviews]

MedGen UID:
44131
Concept ID:
C0023521
Disease or Syndrome
2.

Intellectual developmental disorder and retinitis pigmentosa; IDDRP

Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017). [from OMIM]

MedGen UID:
1648358
Concept ID:
C4748658
Disease or Syndrome
3.

Abnormal flash visual evoked potentials

Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. [from HPO]

MedGen UID:
870329
Concept ID:
C4024772
Finding
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