From HPO
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Mutism- MedGen UID:
- 6476
- •Concept ID:
- C0026884
- •
- Disease or Syndrome
Inability to speak or communicate verbally past the age of typical language development.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Scanning speech- MedGen UID:
- 116113
- •Concept ID:
- C0240952
- •
- Mental or Behavioral Dysfunction
An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.
Psychomotor deterioration- MedGen UID:
- 373191
- •Concept ID:
- C1836842
- •
- Finding
Loss of previously present mental and motor abilities.
Loss of ambulation- MedGen UID:
- 332305
- •Concept ID:
- C1836843
- •
- Finding
Inability to walk in a person who previous had the ability to walk.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Rigidity- MedGen UID:
- 7752
- •Concept ID:
- C0026837
- •
- Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Vacuolated lymphocytes- MedGen UID:
- 332307
- •Concept ID:
- C1836855
- •
- Finding
The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
Optic atrophy- MedGen UID:
- 18180
- •Concept ID:
- C0029124
- •
- Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Decreased light- and dark-adapted electroretinogram amplitude- MedGen UID:
- 326793
- •Concept ID:
- C1839025
- •
- Finding
Descreased amplitude of eletrical response upon electroretinography.
Progressive visual loss- MedGen UID:
- 326867
- •Concept ID:
- C1839364
- •
- Finding
A reduction of previously attained ability to see.
Rod-cone dystrophy- MedGen UID:
- 1632921
- •Concept ID:
- C4551714
- •
- Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material- MedGen UID:
- 324619
- •Concept ID:
- C1836851
- •
- Finding
An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material- MedGen UID:
- 323011
- •Concept ID:
- C1836852
- •
- Finding
An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.
- Abnormal cellular phenotype
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system