Total 37 clinical symptoms reported for Pontocerebellar hypoplasia type 7
| Abnormal scrotal rugation |
Anomaly of the folded ridges (wrinkles) of skin of the scrotum.
|
Occasional |
| Absent penis |
Lack of recognizable penile structures.
Synonyms:Absent penis; Aphallia; Aplasia of the penis; Penis aplasia |
Occasional |
| Aplasia of the uterus |
A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.
Synonyms:Absent uterus; uterus absent |
Occasional |
| Clitoral hypertrophy |
Hypertrophy of the clitoris.
Synonyms:Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris |
Occasional |
| Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Occasional |
| Gonadal dysgenesis |
Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.
Synonyms:Mixed gonadal dysgenesis; Pure gonadal dysgenesis |
Occasional |
| Hyperreflexia |
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Synonyms:Increased deep tendon reflexes; Increased reflexes |
Occasional |
| Involuntary movements |
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Synonyms:Involuntary movements; Involuntary muscle contractions |
Occasional |
| Micropenis |
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Synonyms:Short penis; Small penis |
Occasional |
| Microphallus |
Length of penis more than 2 SD below the mean for age accompanied by hypospadias.
|
Occasional |
| Myoclonus |
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Synonyms:Myoclonic jerks |
Occasional |
| Nystagmus |
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Synonyms:Involuntary, rapid, rhythmic eye movements |
Occasional |
| Optic atrophy |
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.
Synonyms:Optic nerve atrophy; Optic-nerve degeneration |
Occasional |
| Seizure |
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.
Synonyms:Epileptic seizure; Seizures |
Occasional |
| Spasticity |
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Synonyms:Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity |
Occasional |
| Upslanted palpebral fissure |
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Synonyms:Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures |
Occasional |