Preferred Label : Nystagmus 1, congenital, X-linked;
Symbol : NYS1;
CISMeF acronym : IIN; NYS1; XIPAN;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Nystagmus, congenital motor, 1; Nystagmus 1, infantile, X-linked; Nystagmus, infantile idiopathic; IIN;
Included titles and symbols : Nystagmus, infantile periodic alternating, X-linked; Xlpan; XIPAN;
Description : Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations
of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt.
Other associated features may include mildly decreased visual acuity, strabismus,
astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile
nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating
velocity slow phase. However, pendular and triangular waveforms may also be present.
The nystagmus may rarely be vertical. As these patients often have normal visual acuity,
it is presumed that the nystagmus represents a primary defect in the parts of the
brain responsible for ocular motor control; thus the disorder has sometimes been termed
'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). Congenital
nystagmus may also be a feature of other ocular diseases, such as albinism (see, e.g.,
OCA1A, 203100), achromatopsia (see, e.g.,;
Inheritance : X-linked;
Molecular basis : Caused by mutation in the ferm domain-containing 7 gene (FRMD7, 300628.0001);
Prefixed ID : #310700;
Origin ID : 310700;
UMLS CUI : C1839580;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
