spastic diplegia

A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.

encephalopathy due to defective mitochondrial and peroxisomal fission 2

A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36.

hypomyelinating leukodystrophy 22

A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.

developmental and epileptic encephalopathy 102

A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21.

developmental and epileptic encephalopathy 73

A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1.

infantile hypotonia with psychomotor retardation and characteristic facies-3

An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.

autosomal recessive spinocerebellar ataxia 29

An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14.

childhood-onset neurodegeneration with brain atrophy

A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.

juvenile spinal muscular atrophy

A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.

autosomal dominant primary microcephaly 27

A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.