Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases
characterized by progressive age-dependent loss of corticospinal motor tract function. Although …

Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are
often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental …

Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Pediatric-onset ataxias often present clinically as developmental delay and intellectual
disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we …

Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated
startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile …

Objective With 20-30% of all marriages occurring between first cousins, increasing attention
in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The …

Katanin is a microtubule-severing complex whose catalytic activities are well characterized,
but whose in vivo functions are incompletely understood. Human mutations in KATNB1, …

Objective: To identify the genetic cause of a syndrome causing cerebellar ataxia and eye
movement abnormalities. Methods: We identified 2 families with cerebellar ataxia, eye …

We delineated a syndromic recessive preaxial brachydactyly with partial duplication of
proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 …

Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a …