Hypomyelination with atrophy of basal ganglia and cerebellum

General Information (adopted from Orphanet):

Synonyms, Signs: LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
HABC
HLD6
H-ABC
Number of Symptoms 35
OrphanetNr: 139441
OMIM Id: 612438
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 19 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000505) Visual impairment 297 / 7739
3
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
4
 (HPO:0000648) Optic atrophy 238 / 7739
5
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
6
 (HPO:0002063) Rigidity 92 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001266) Choreoathetosis 57 / 7739
12
 (HPO:0001328) Specific learning disability 114 / 7739
13
 (HPO:0001332) Dystonia 197 / 7739
14
 (HPO:0001337) Tremor 200 / 7739
15
 (HPO:0002465) Poor speech 31 / 7739
16
 (HPO:0001251) Ataxia 413 / 7739
17
 (HPO:0001257) Spasticity 251 / 7739
18
 (HPO:0000750) Delayed speech and language development 197 / 7739
19
 (HPO:0004322) Short stature 1232 / 7739
20
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
21
 (HPO:0003828) Variable expressivity 130 / 7739
22
 (HPO:0006808) Cerebral hypomyelination 16 / 7739
23
 (OMIM) Small caudate 1 / 7739
24
 (HPO:0002415) Leukodystrophy 30 / 7739
25
 (HPO:0003745) Sporadic 131 / 7739
26
 (OMIM) Hypomyelination of the brain white matter, diffuse 1 / 7739
27
 (OMIM) Opisthotonic posturing 4 / 7739
28
 (HPO:0001272) Cerebellar atrophy 197 / 7739
29
 (OMIM) Oculogyric eye movements 1 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (OMIM) Gait impairment 2 / 7739
32
 (OMIM) Absence or atrophy of the putamen 1 / 7739
33
 (OMIM) Mental retardation, moderate to severe 20 / 7739
34
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
 (HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement ...
Clinical Description OMIM In a retrospective study of patients with leukodystrophy, van der Knaap et al. (2002) identified 7 unrelated patients with neurologic impairment associated with a distinct brain MRI pattern characterized by hypomyelination and atrophy of the basal ganglia and ...
Molecular genetics OMIM In 9 unrelated patients with hypomyelinating leukodystrophy-6 (HLD6), Simons et al. (2013) identified the same de novo heterozygous mutation in the TUBB4A gene (D249N; 602662.0001). Two sibs with the disorder inherited the mutation from their unaffected mother, who ...