Severe neonatal-onset encephalopathy with microcephaly

General Information (adopted from Orphanet):

Synonyms, Signs: Severe congenital encephalopathy due to MECP2 mutation
Number of Symptoms 27
OrphanetNr: 209370
OMIM Id: 300673
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Monogenic disease with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Neonatal epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0010864) Intellectual disability, severe 120 / 7739
3
 (HPO:0001298) Encephalopathy 72 / 7739
4
 (HPO:0002063) Rigidity 92 / 7739
5
 (HPO:0001336) Myoclonus 115 / 7739
6
 (HPO:0001347) Hyperreflexia 363 / 7739
7
 (HPO:0002353) EEG abnormality 188 / 7739
8
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0011968) Feeding difficulties 240 / 7739
12
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
13
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
14
 (HPO:0001508) Failure to thrive 454 / 7739
15
 (HPO:0007110) Central hypoventilation 6 / 7739
16
 (HPO:0002093) Respiratory insufficiency 410 / 7739
17
 (HPO:0002104) Apnea 106 / 7739
18
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
19
 (OMIM) Hyperextension of the limbs 1 / 7739
20
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
21
 (OMIM) Stereotypical movements 2 / 7739
22
 (OMIM) Developmental delay, severe 13 / 7739
23
 (OMIM) Dyskinetic movements 1 / 7739
24
 (HPO:0002126) Polymicrogyria 64 / 7739
25
 (OMIM) Limb rigidity 1 / 7739
26
 (HPO:0003577) Congenital onset 133 / 7739
27
 (OMIM) Encephalopathy, severe, neonatal 1 / 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. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified ...
Clinical Description OMIM Schanen et al. (1998) reported 2 males with severe encephalopathy born to putative mutant gene carriers in families with recurrent RTT. One of them was the son of the obligate carrier in a family reported by Schanen et ...
Molecular genetics OMIM In a boy who died of congenital encephalopathy, Wan et al. (1999) identified a hemizygous 1-bp deletion in the MECP2 gene (806delG; 300005.0003). His sister and aunt, who both carried the mutation, had Rett syndrome. His carrier mother ...