U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHDC1
(R688*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AHDC1
(A605fs)
Indel
(frameshift variant)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
GPathogenic