- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:230650)
- Foam cells (HP:0003651): The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. Evidence: TAS. (OMIM:230650)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: IEA. (OMIM:230650)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: IEA. (OMIM:230650)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:230650)
- Seizure (HP:0001250): 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. Evidence: PCS. Frequency: 0/3. (PMID:8198123)
- Cherry red spot of the macula (HP:0010729): Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula. Evidence: PCS. Frequency: 0/3. (PMID:8198123)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 0/3. (PMID:8198123)
- Hypoplastic acetabulae (HP:0003274): Underdeveloped acetabulae. Evidence: IEA. (OMIM:230650)
- Slurred speech (HP:0001350): Abnormal coordination of muscles involved in speech. Evidence: IEA. (OMIM:230650)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. 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). Evidence: PCS. Frequency: 1/3. (PMID:8198123)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 0/3. (PMID:8198123)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/3. (PMID:8198123)
- Anterior beaking of lumbar vertebrae (HP:0008430): Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. Evidence: IEA. (OMIM:230650)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 2/3. (PMID:8198123)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 0/3. (PMID:8198123)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. (PMID:8198123)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: IEA. (OMIM:230650)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:8198123)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 3/3. (PMID:8198123)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 1/3. (PMID:8198123)
- Dysarthria (HP:0001260): 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. Evidence: PCS. Frequency: 2/3. (PMID:8198123)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 1/1. (PMID:8198123)
- Decreased beta-galactosidase activity (HP:0008166): Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. Evidence: PCS. Frequency: 3/3. (PMID:8198123)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 1/1. (PMID:8198123)
- Diffuse cerebral atrophy (HP:0002506): Diffuse unlocalised atrophy affecting the cerebrum. Evidence: IEA. (OMIM:230650)
- Flared iliac wing (HP:0002869): Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. Evidence: IEA. (OMIM:230650)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:8198123)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: PCS. Frequency: 0/3. (PMID:8198123)
These phenotypes are associated with the disease GM1 gangliosidosis type 3 (OMIM:230650).