EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: INFANTILE SPASM SYNDROME, X-LINKED 2
ISSX2
EIEE2
Number of Symptoms 41
OrphanetNr:
OMIM Id: 300672
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000253) Progressive microcephaly 37 / 7739
2
(HPO:0000490) Deeply set eye 131 / 7739
3
(HPO:0000463) Anteverted nares 305 / 7739
4
(HPO:0012471) Thick vermilion border 115 / 7739
5
(HPO:0000337) Broad forehead 116 / 7739
6
(HPO:0011220) Prominent forehead 137 / 7739
7
(HPO:0001336) Myoclonus 115 / 7739
8
(HPO:0000817) Poor eye contact 26 / 7739
9
(HPO:0000733) Stereotypy 58 / 7739
10
(HPO:0002197) Generalized seizures 30 / 7739
11
(HPO:0012469) Infantile spasms 18 / 7739
12
(HPO:0002353) EEG abnormality 188 / 7739
13
(HPO:0100785) Insomnia 18 / 7739
14
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
15
(HPO:0002187) Intellectual disability, profound 44 / 7739
16
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
17
(HPO:0001263) Global developmental delay 853 / 7739
18
(HPO:0002521) Hypsarrhythmia 43 / 7739
19
(HPO:0001773) Short foot 86 / 7739
20
(HPO:0002650) Scoliosis 705 / 7739
21
(HPO:0200055) Small hand 71 / 7739
22
(HPO:0001182) Tapered finger 93 / 7739
23
(HPO:0002019) Constipation 194 / 7739
24
(HPO:0002020) Gastroesophageal reflux 101 / 7739
25
(HPO:0002883) Hyperventilation 10 / 7739
26
(HPO:0001252) Muscular hypotonia 990 / 7739
27
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
28
(HPO:0001324) Muscle weakness 859 / 7739
29
(HPO:0010547) Muscle flaccidity 466 / 7739
30
(OMIM) Seizures, infantile onset 4 / 7739
31
(OMIM) Inability to walk independently 4 / 7739
32
(OMIM) Autonomic disturbances 1 / 7739
33
(OMIM) Large-appearing eyes 1 / 7739
34
(OMIM) [DEL]Autistic features 43 / 7739
35
(OMIM) Hand-wringing 1 / 7739
36
(OMIM) Motor dyspraxia 2 / 7739
37
(OMIM) Well-defined eyebrows 2 / 7739
38
(OMIM) Multifocal seizures 2 / 7739
39
(OMIM) Breath-holding episodes 2 / 7739
40
(OMIM) Psychomotor regression may occur 1 / 7739
41
(OMIM) Lack of speech development 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech ...
Clinical Description OMIM Kalscheuer et al. (2003) reported 2 unrelated girls with early-onset severe infantile spasms, profound global developmental arrest, hypsarrhythmia, and severe mental retardation.

Weaving et al. (2004) reported a family with infantile spasms and severe mental retardation. ...

Genotype-Phenotype Correlations OMIM Russo et al. (2009) identified 7 different mutations in the CDKL5 gene in 6 of 93 patients with classic or atypical Rett syndrome and 1 of 17 patients with an Angelman syndrome (105830)-like phenotype. Two of the patients ...
Molecular genetics OMIM In 2 affected twin girls and an affected brother from a family with EIEE2, Weaving et al. (2004) identified a mutation in the CDKL5 gene (183delT; 300203.0001). Affected girls of a second family had a different mutation in ...