Atypical Rett syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Rett syndrome variant
Atypical RTT
Number of Symptoms 53
OrphanetNr: 3095
OMIM Id: 300672
312750
613454
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2.22 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Monogenic disease with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Motor stereotypies
 -Rare genetic disease
 -Rare neurologic disease
Rare pervasive developmental disorder
 -Rare genetic disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0000463) Anteverted nares 305 / 7739
3
 (HPO:0011220) Prominent forehead 137 / 7739
4
 (HPO:0000337) Broad forehead 116 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
7
 (HPO:0000490) Deeply set eye 131 / 7739
8
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
9
 (HPO:0002376) Developmental regression 74 / 7739
10
 (HPO:0002187) Intellectual disability, profound 44 / 7739
11
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
12
 (HPO:0002540) Inability to walk 19 / 7739
13
 (HPO:0000733) Stereotypy Very frequent [Orphanet] 58 / 7739
14
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
15
 (HPO:0002521) Hypsarrhythmia 43 / 7739
16
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
17
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] 113 / 7739
18
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
19
 (HPO:0002270) Abnormality of the autonomic nervous system Occasional [Orphanet] 22 / 7739
20
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
21
 (HPO:0001263) Global developmental delay 853 / 7739
22
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
23
 (HPO:0000817) Poor eye contact 26 / 7739
24
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
25
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
26
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
27
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
28
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
29
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
30
 (HPO:0001336) Myoclonus 115 / 7739
31
 (HPO:0012469) Infantile spasms 18 / 7739
32
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
33
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
34
 (HPO:0001773) Short foot 86 / 7739
35
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
36
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
37
 (HPO:0200055) Small hand 71 / 7739
38
 (HPO:0001182) Tapered finger 93 / 7739
39
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Occasional [Orphanet] 69 / 7739
40
 (HPO:0002019) Constipation 194 / 7739
41
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
42
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
43
 (HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
44
 (HPO:0001063) Acrocyanosis Frequent [Orphanet] 56 / 7739
45
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
46
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
47
 (HPO:0002793) Abnormal pattern of respiration Frequent [Orphanet] 26 / 7739
48
 (HPO:0002883) Hyperventilation 10 / 7739
49
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
50
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
51
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
52
 (HPO:0003593) Infantile onset 249 / 7739
53
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: