Qazi-Markouizos syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Dysharmonic skeletal maturation - muscular fibre disproportion
Number of Symptoms 37
OrphanetNr: 3010
OMIM Id: 600096
ICD-10:
UMLs: C2931142
MeSH: C536259
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
3
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
4
 (HPO:0000189) Narrow palate 45 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0002307) Drooling 43 / 7739
7
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
8
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
9
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
10
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
11
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
12
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
13
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
14
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
15
 (HPO:0002353) EEG abnormality 188 / 7739
16
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
19
 (HPO:0011344) Severe global developmental delay 46 / 7739
20
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
21
 (HPO:0001018) Abnormal palmar dermatoglyphics 4 / 7739
22
 (HPO:0200000) Dysharmonic bone age 3 / 7739
23
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
24
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
25
 (HPO:0005832) Dysharmonic delayed bone age 3 / 7739
26
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
27
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
28
 (HPO:0012450) Chronic constipation 10 / 7739
29
 (HPO:0003270) Abdominal distention 46 / 7739
30
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
31
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
32
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
33
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
34
 (OMIM) Eyes 1 / 7739
35
 (OMIM) Marked, central, nonprogressive hypotonia 1 / 7739
36
 (OMIM) Preponderance and larger size of type 2 muscle fibers 1 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: