[…] lower lip [ more ] 0000232 Genu recurvatum Back knee Knee hyperextension [ more ] 0002816 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Microdontia [rarediseases.info.nih.gov]

It is a progressive disease that usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. [ingentaconnect.com]

delayed development of movement and coordination), corneal opacity, retinal degeneration and other ophthalmological abnormalities. [en.wikipedia.org]

Treatment is based on the signs and symptoms present in each person. 0001344 Aplasia/Hypoplasia of the abdominal wall musculature Absent/small abdominal wall muscles Absent/underdeveloped abdominal wall muscles [ more ] 0010318 Corneal opacity 0007957 [rarediseases.info.nih.gov]

Mucolipidosis IV (MLIV) is a progressive neurological lysosomal storage disease that usually is evident during the first year of life, and presents with mental retardation, corneal opacities, and delayed developmental milestones. [genedx.com]

Our data show that RPE1 (retinal pigmented epithelial 1) cells develop a punctate mitochondrial phenotype within 48 h of siRNA-induced TRPML1-KD (knockdown). [biochemj.org]

pigmentation 0007703 Biparietal narrowing 0004422 Coarse facial features Coarse facial appearance 0000280 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Genu recurvatum Back knee Knee hyperextension [ more ] [rarediseases.info.nih.gov]

Over the first decade of life, progressive retinal degeneration with varying degrees of vascular attenuation, retinal pigment epithelial changes, and optic nerve pallor result in further decrease in vision [ Siegel et al 1998, Altarescu et al 2002, Pradhan [ncbi.nlm.nih.gov]

Infants with I-cell disease are typically underweight at birth, with muscle hypotonia and coarse facial features, the full clinical picture of the disorder presenting between 6 and 8 months. [5] Other features include joint stiffness, dislocated hips, [saudija.org]

[…] abdominal wall muscles Absent/underdeveloped abdominal wall muscles [ more ] 0010318 Corneal opacity 0007957 Developmental stagnation 0007281 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Ganglioside accumulation 0004345 Hyperreflexia [rarediseases.info.nih.gov]

Moreover, the trpv1 ( / ) mouse does not develop bladder overactivity during acute bladder inflammation, indicating that TRPV1 is involved in bladder hyperreflexia in inflammation ( 401 ). FIG. 12. [doi.org]

sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Cerebral dysmyelination 0007266 Decreased light- and dark-adapted electroretinogram amplitude 0000654 Dysplastic corpus callosum 0006989 Dystonia 0001332 Generalized hypotonia Decreased [rarediseases.info.nih.gov]

sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Cerebral dysmyelination 0007266 Decreased light- and dark-adapted electroretinogram amplitude 0000654 Dysplastic corpus callosum 0006989 Dystonia 0001332 Generalized hypotonia Decreased [rarediseases.info.nih.gov]

Slaugenhaupt, Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV, Acta Neuropathologica Communications, 2, 1, (2014). [doi.org]