Intellectual deficit, X-linked - psychosis - macroorchidism

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED 16
MENTAL RETARDATION, X-LINKED, WITH SPASTICITY
MRXS13 MENTAL RETARDATION, X-LINKED 79
MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM
PPM-X
MRX16
MRX79
PPMX
Lindsay-Burn syndrome
Number of Symptoms 43
OrphanetNr: 3077
OMIM Id: 300055
ICD-10: F71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000053) Macroorchidism Very frequent [Orphanet] 18 / 7739
2
 (HPO:0002050) Macroorchidism, postpubertal 2 / 7739
3
 (HPO:0000297) Facial hypotonia 8 / 7739
4
 (HPO:0000164) Abnormality of the teeth 291 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0002307) Drooling 43 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0003781) Excessive salivation 15 / 7739
11
 (HPO:0000400) Macrotia 108 / 7739
12
 (HPO:0001251) Ataxia 413 / 7739
13
 (HPO:0002362) Shuffling gait 13 / 7739
14
 (HPO:0001300) Parkinsonism 75 / 7739
15
 (HPO:0003763) Bruxism 7 / 7739
16
 (HPO:0000750) Delayed speech and language development 197 / 7739
17
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
18
 (HPO:0001257) Spasticity 251 / 7739
19
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0001347) Hyperreflexia 363 / 7739
22
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
23
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
24
 (HPO:0003487) Babinski sign 179 / 7739
25
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
26
 (HPO:0001337) Tremor 200 / 7739
27
 (HPO:0002064) Spastic gait 46 / 7739
28
 (HPO:0001263) Global developmental delay 853 / 7739
29
 (HPO:0001266) Choreoathetosis 57 / 7739
30
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
31
 (HPO:0000709) Psychosis 61 / 7739
32
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
33
 (HPO:0001256) Intellectual disability, mild 141 / 7739
34
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
35
 (HPO:0001761) Pes cavus 225 / 7739
36
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [Orphanet] 73 / 7739
37
 (HPO:0003677) Slow progression 134 / 7739
38
 (OMIM) Mood instability 1 / 7739
39
 (OMIM) Schizophrenic symptoms (reported in 1 patient) 1 / 7739
40
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
41
 (OMIM) Distal atrophy of the legs 1 / 7739
42
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked mental ...
Clinical Description OMIM Lindsay et al. (1996) described an X-linked mental retardation syndrome linked to Xq28. This syndrome was identified in a 3-generation family in which 4 of 6 moderately retarded males also had episodes of manic-depressive psychosis. The phenotype also ...
Genotype-Phenotype Correlations OMIM Yntema et al. (2002) reported a family in which 3 males in 2 generations had mild nonspecific mental retardation without any morphologic or neurologic anomalies and no history of mental regression. Affected individuals had a 240-bp in-frame deletion ...
Molecular genetics OMIM By SSCP followed by direct sequencing of PCR products that showed abnormal migration, Meloni et al. (2000) found a mutation of the MECP2 gene (E406X; 300005.0009) in the affected males in the family reported by Claes et al. ...