Leukoencephalopathy - ataxia - hypodontia - hypomyelination

General Information (adopted from Orphanet):

Synonyms, Signs: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION
LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM
4H SYNDROME
LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION
HLD7
ADDH
Ataxia - delayed dentition - hypomyelination
Number of Symptoms 40
OrphanetNr: 137639
OMIM Id: 607694
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000668) Hypodontia 81 / 7739
3
 (HPO:0000677) Oligodontia 41 / 7739
4
 (HPO:0002307) Drooling 43 / 7739
5
 (HPO:0000545) Myopia 286 / 7739
6
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
7
 (HPO:0000617) Abnormality of ocular smooth pursuit 6 / 7739
8
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
9
 (HPO:0007178) Motor polyneuropathy 31 / 7739
10
 (HPO:0001332) Dystonia 197 / 7739
11
 (HPO:0009830) Peripheral neuropathy rare [HPO:skoehler] 206 / 7739
12
 (HPO:0002174) Postural tremor 22 / 7739
13
 (HPO:0002015) Dysphagia 301 / 7739
14
 (HPO:0001263) Global developmental delay typical [HPO:skoehler] 853 / 7739
15
 (HPO:0002384) Focal seizures with impairment of consciousness or awareness 17 / 7739
16
 (HPO:0001310) Dysmetria 76 / 7739
17
 (HPO:0001260) Dysarthria 329 / 7739
18
 (HPO:0001347) Hyperreflexia 363 / 7739
19
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
20
 (HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
21
 (HPO:0003487) Babinski sign 179 / 7739
22
 (HPO:0001251) Ataxia 413 / 7739
23
 (HPO:0001257) Spasticity 251 / 7739
24
 (HPO:0000823) Delayed puberty hallmark [HPO:skoehler] 65 / 7739
25
 (HPO:0004322) Short stature 1232 / 7739
26
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
27
 (OMIM) Decreased vibratory and positional sense (some patients) 2 / 7739
28
 (OMIM) Vertical gaze limitation 2 / 7739
29
 (HPO:0001272) Cerebellar atrophy 197 / 7739
30
 (HPO:0003429) CNS hypomyelination 21 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
 (OMIM) Motor regression 3 / 7739
33
 (HPO:0002415) Leukodystrophy 30 / 7739
34
 (OMIM) Cognitive regression, mild 2 / 7739
35
 (OMIM) Developmental delay, mild 8 / 7739
36
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
37
 (HPO:0003812) Phenotypic variability 129 / 7739
38
 (MedDRA:10069632) Bladder dysfunction 3 / 7739
39
 (HPO:0003676) Progressive disorder 148 / 7739
40
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and ...
Clinical Description OMIM In an inbred Syrian pedigree, Atrouni et al. (2003) described oligodontia in association with a degenerative neurologic condition characterized by progressive ataxia and pyramidal syndrome. Age at onset was about 12 years. Abnormalities in the white matter and ...
Molecular genetics OMIM By narrowing the candidate disease locus followed by direct sequencing of the genes in the refined 2.99-Mb interval in several families with hypomyelinating leukodystrophy mapping to chromosome 10q22, Bernard et al. (2011) identified 14 different mutations in the ...