Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 85317
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
(HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
3
(HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
4
(HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
5
(HPO:0000336) Prominent supraorbital ridges Frequent [Orphanet] 45 / 7739
6
(HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
7
(HPO:0005487) Prominent metopic ridge Very frequent [Orphanet] 28 / 7739
8
(HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
9
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
(HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
11
(HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
12
(HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
13
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
14
(HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
15
(HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
16
(HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
17
(HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
18
(HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
19
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: