Marfanoid habitus - intellectual deficit, autosomal recessive

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 37
OrphanetNr: 2463
OMIM Id: 248770
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

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

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
3
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
4
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
5
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
6
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
7
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
8
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
9
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
10
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
11
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
12
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
13
 (HPO:0002002) Deep philtrum Frequent [Orphanet] 42 / 7739
14
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
18
 (HPO:0010488) Aplasia/Hypoplasia of the palmar creases Very frequent [Orphanet] 15 / 7739
19
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
20
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
21
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
22
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
23
 (HPO:0001166) Arachnodactyly 62 / 7739
24
 (HPO:0001519) Disproportionate tall stature Frequent [Orphanet] 39 / 7739
25
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
26
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
27
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
28
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
29
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [Orphanet] 73 / 7739
30
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
31
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (OMIM) Long and slender limbs 1 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
 (OMIM) Arm span greater than height 1 / 7739
36
 (OMIM) Flat facies 5 / 7739
37
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: