Laryngeal abductor paralysis - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: VOCAL CORD DYSFUNCTION, FAMILIAL
plott syndrome
Number of Symptoms 17
OrphanetNr: 2375
OMIM Id: 308850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
2
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
3
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
4
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
5
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
8
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
9
 (HPO:0004886) Congenital laryngeal stridor 3 / 7739
10
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
11
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
12
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
13
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
14
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
15
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
17
 (OMIM) Congenital laryngeal abductor paralysis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: