Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
- Synonyms
- 4h syndrome; ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION; Dentoleukoencephalopathy; Dentoleukoencephalopathy, autosomal recessive; Hypomyelinating leukodystrophy 7; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA AND HYPOGONADOTROPIC HYPOGONADISM; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC HYPOGONADISM; LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION; Leukodystrophy with oligodontia; Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Geneviève Bernard
- Adeline Vanderver
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Drooling
Drooling
- MedGen UID: 8484
- Concept ID: C0013132
- Finding: Finding
Abnormality of head or neck
- Oligodontia
Oligodontia
- MedGen UID: 904670
- Concept ID: C4082304
- Finding: Congenital Abnormality
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Drooling
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the endocrine system
- Delayed puberty
Delayed puberty
- MedGen UID: 46203
- Concept ID: C0034012
- Finding: Pathologic Function
Abnormality of the endocrine system
- Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
- MedGen UID: 82883
- Concept ID: C0271623
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Delayed puberty
- Abnormality of the eye
- Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit
- MedGen UID: 322909
- Concept ID: C1836393
- Finding: Finding
Abnormality of the eye
- Gaze-evoked nystagmus
Gaze-evoked nystagmus
- MedGen UID: 1808161
- Concept ID: C5574666
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy
- MedGen UID: 334385
- Concept ID: C1843369
- Finding: Disease or Syndrome
Abnormality of the eye
- Abnormality of ocular smooth pursuit
- Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral cortical atrophy
Cerebral cortical atrophy
- MedGen UID: 1646740
- Concept ID: C4551583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Leukodystrophy
Leukodystrophy
- MedGen UID: 6070
- Concept ID: C0023520
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Loss of ambulation
Loss of ambulation
- MedGen UID: 332305
- Concept ID: C1836843
- Finding: Finding
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Postural tremor
Postural tremor
- MedGen UID: 66696
- Concept ID: C0234378
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Babinski sign
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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