Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MCAHS3
Number of Symptoms 51
OrphanetNr: 369837
OMIM Id: 615398
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Slender bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000107) Renal cyst 126 / 7739
2
 (HPO:0002150) Hypercalciuria 45 / 7739
3
 (HPO:0000121) Nephrocalcinosis 57 / 7739
4
 (HPO:0002002) Deep philtrum 42 / 7739
5
 (HPO:0000164) Abnormality of the teeth 291 / 7739
6
 (HPO:0000256) Macrocephaly 298 / 7739
7
 (HPO:0000194) Open mouth 70 / 7739
8
 (HPO:0000248) Brachycephaly 222 / 7739
9
 (HPO:0000341) Narrow forehead 96 / 7739
10
 (HPO:0000343) Long philtrum 262 / 7739
11
 (HPO:0005280) Depressed nasal bridge 381 / 7739
12
 (HPO:0000348) High forehead 157 / 7739
13
 (HPO:0000486) Strabismus 576 / 7739
14
 (HPO:0000496) Abnormality of eye movement 79 / 7739
15
 (HPO:0000639) Nystagmus 555 / 7739
16
 (HPO:0000505) Visual impairment 297 / 7739
17
 (HPO:0000540) Hypermetropia 99 / 7739
18
 (HPO:0001250) Seizures 1245 / 7739
19
 (HPO:0002353) EEG abnormality 188 / 7739
20
 (HPO:0001263) Global developmental delay 853 / 7739
21
 (HPO:0003186) Inverted nipples 15 / 7739
22
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
23
 (HPO:0002650) Scoliosis 705 / 7739
24
 (HPO:0000767) Pectus excavatum 244 / 7739
25
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
26
 (HPO:0000938) Osteopenia 138 / 7739
27
 (HPO:0001520) Large for gestational age 34 / 7739
28
 (HPO:0001723) Restrictive cardiomyopathy 22 / 7739
29
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
30
 (HPO:0003072) Hypercalcemia 36 / 7739
31
 (HPO:0010547) Muscle flaccidity 466 / 7739
32
 (HPO:0001324) Muscle weakness 859 / 7739
33
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
34
 (HPO:0001252) Muscular hypotonia 990 / 7739
35
 (OMIM) Premature loss of incisors 1 / 7739
36
 (OMIM) Variable intracranial abnormalities 1 / 7739
37
 (OMIM) Motor and intellectual disability, severe 1 / 7739
38
 (OMIM) Frontotemporal atrophy 3 / 7739
39
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
40
 (OMIM) Primitive Sylvian fissures 1 / 7739
41
 (OMIM) Macrosomia, mild 1 / 7739
42
 (OMIM) Secondary ossification centers 1 / 7739
43
 (HPO:0003593) Infantile onset 249 / 7739
44
 (OMIM) Premature close of sutures 1 / 7739
45
 (OMIM) Macrocephaly, mild 1 / 7739
46
 (OMIM) Ureteral dilation 1 / 7739
47
 (HPO:0002059) Cerebral atrophy 171 / 7739
48
 (OMIM) Decreased alkaline phosphatase 1 / 7739
49
 (OMIM) Abnormal skull shape 1 / 7739
50
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
51
 (OMIM) Wide and long femoral necks 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kvarnung et al. (2013) reported a consanguineous family of Turkish origin in which 4 patients had severe intellectual and motor disability and multiple congenital anomalies. The patients were born with mild macrosomia and macrocephaly and showed hypotonia and ...
Molecular genetics OMIM In 4 affected members of a consanguineous Turkish family with multiple congenital anomalies-hypotonia-seizures syndrome-3, Kvarnung et al. (2013) identified a homozygous mutation in the PIGT gene (T183P; 610272.0001). The mutation, which was found by whole-exome sequencing and confirmed ...