Phenotype: Difficulty standing (HP:0003698)
Associated genes and diseases:
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: TFG
disease_id: ORPHA:431329
disease_name: Autosomal recessive spastic paraplegia type 57
SPG57
Spastic paraplegia due to partial TFG deficiency
gene_symbol: TFG
disease_id: ORPHA:90117
disease_name: Hereditary motor and sensory neuropathy, Okinawa type
HMSNP
Hereditary motor and sensory neuropathy, proximal type
gene_symbol: TK2
disease_id: ORPHA:254875
disease_name: Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form
gene_symbol: KY
disease_id: ORPHA:496689
disease_name: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
gene_symbol: GRM1
disease_id: ORPHA:324262
disease_name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
SCAR13
gene_symbol: CLN8
disease_id: ORPHA:1947
disease_name: Progressive epilepsy-intellectual disability syndrome, Finnish type
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy
gene_symbol: ATP2B3
disease_id: OMIM:302500
disease_name: SPINOCEREBELLAR ATAXIA, X-LINKED 1
gene_symbol: GPAA1
disease_id: ORPHA:529665
disease_name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
GPAA1-related biosynthesis defect
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: FAR1
disease_id: ORPHA:438178
disease_name: Fatty acyl-CoA reductase 1 deficiency
FAR1 deficiency
PFCRD
Peroxisomal fatty acyl-CoA reductase 1 disorder
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
gene_symbol: ABCC8
disease_id: OMIM:618857
disease_name: DIABETES MELLITUS, PERMANENT NEONATAL, 3
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
gene_symbol: WARS2
disease_id: ORPHA:572798
disease_name: WARS2-related combined oxidative phosphorylation defect
Mitochondrial tryptophanyl-tRNA synthetase deficiency
gene_symbol: TRMT5
disease_id: OMIM:616539
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: DYSF
disease_id: ORPHA:45448
disease_name: Miyoshi myopathy
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS
gene_symbol: CYP2R1
disease_id: OMIM:600081
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
gene_symbol: MYOT
disease_id: ORPHA:98911
disease_name: Distal myotilinopathy
gene_symbol: LRP12
disease_id: OMIM:620452
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 28
gene_symbol: DYM
disease_id: ORPHA:239
disease_name: Dyggve-Melchior-Clausen disease