PEHO-like syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY
INFANTILE CEREBELLOOPTIC ATROPHY PEHO-LIKE SYNDROME, INCLUDED
Number of Symptoms 31
OrphanetNr: 99807
OMIM Id: 260565
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Epileptic syndrome
 -Rare genetic disease
 -Rare neurologic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000194) Open mouth 70 / 7739
2
(HPO:0000293) Full cheeks 85 / 7739
3
(HPO:0010804) Tented upper lip vermilion 47 / 7739
4
(HPO:0000341) Narrow forehead 96 / 7739
5
(HPO:0000278) Retrognathia 100 / 7739
6
(HPO:0000286) Epicanthus 371 / 7739
7
(HPO:0003196) Short nose 264 / 7739
8
(HPO:0000253) Progressive microcephaly 37 / 7739
9
(HPO:0007965) Undetectable visual evoked potentials 3 / 7739
10
(HPO:0002187) Intellectual disability, profound 44 / 7739
11
(HPO:0001327) Photomyoclonic seizures 125 / 7739
12
(HPO:0001250) Seizures 1245 / 7739
13
(HPO:0001347) Hyperreflexia 363 / 7739
14
(HPO:0011968) Feeding difficulties 240 / 7739
15
(HPO:0010741) Edema of the lower limbs 34 / 7739
16
(HPO:0012398) Peripheral edema 12 / 7739
17
(HPO:0007514) Edema of the dorsum of hands 7 / 7739
18
(HPO:0006829) Severe muscular hypotonia 29 / 7739
19
(OMIM) Relative preservation of Purkinje cells, but they are deformed and disaligned 2 / 7739
20
(OMIM) 'Pear-shaped' face 2 / 7739
21
(OMIM) Optic atrophy by 2 years of age 2 / 7739
22
(OMIM) MRI shows dysmyelination 2 / 7739
23
(OMIM) Tapered digits 4 / 7739
24
(OMIM) Curved upper lip 2 / 7739
25
(OMIM) Visual fixation absent from birth or lost in first months of life 2 / 7739
26
(OMIM) Cerebellar atrophy, progressive 6 / 7739
27
(OMIM) Absent cortical responses of somatosensory evoked potentials 2 / 7739
28
(OMIM) EEG shows hypsarrhythmia 4 / 7739
29
(OMIM) Neuropathology shows severe neuronal loss in the inner granular layer of the cerebellum 2 / 7739
30
(OMIM) Lack of developmental development 2 / 7739
31
(OMIM) Brain stem atrophy, progressive 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Salonen et al. (1991) identified a new form of infantile progressive encephalopathy in 14 patients, 8 of whom were female, from 11 families. The clinical signs included severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperreflexia, transient or ...