U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 2

1.

Skraban-Deardorff syndrome

WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation). [from GeneReviews]

MedGen UID:
1627555
Concept ID:
C4539927
Disease or Syndrome
2.

Absent cupid bow

Lack of paramedian peaks and median notch of the upper lip vermilion. [from HPO]

MedGen UID:
488985
Concept ID:
C2053435
Finding

Supplemental Content

Find related data

Search details

See more...

Recent activity