X-linked intellectual deficit with marfanoid habitus

General Information (adopted from Orphanet):

Synonyms, Signs: X-linked mental retardation with marfanoid habitus
XLMR with marfanoid habitus
Lujan-Fryns syndrome
Lujan syndrome
Number of Symptoms 47
OrphanetNr: 776
OMIM Id: 300676
309520
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked 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
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000053) Macroorchidism Frequent [Orphanet] 18 / 7739
2
 (HPO:0000303) Mandibular prognathia 179 / 7739
3
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
4
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0000276) Long face 109 / 7739
7
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
8
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
9
 (HPO:0000218) High palate 356 / 7739
10
 (HPO:0002007) Frontal bossing 366 / 7739
11
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
12
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
13
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
14
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
15
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
16
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
17
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
18
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
19
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
20
 (HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
21
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
22
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
23
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
24
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0002808) Kyphosis 289 / 7739
27
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
28
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
29
 (HPO:0001833) Long foot 33 / 7739
30
 (HPO:0001166) Arachnodactyly 62 / 7739
31
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
32
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
33
 (HPO:0000768) Pectus carinatum 136 / 7739
34
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
35
 (HPO:0000774) Narrow chest 167 / 7739
36
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
37
 (HPO:0001519) Disproportionate tall stature Very frequent [Orphanet] 39 / 7739
38
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
39
 (HPO:0001507) Growth abnormality 36 / 7739
40
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
41
 (HPO:0001611) Nasal speech 48 / 7739
42
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
43
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
44
 (HPO:0003011) Abnormality of the musculature 47 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
46
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
47
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: