Disease #03814 (SPG54 (paraplegia, spastic, type 54, autosomal recessive (SPG-54)), OMIM:615033)

Official abbreviation SPG54
Name paraplegia, spastic, type 54, autosomal recessive (SPG-54)
OMIM ID 615033
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 6
Phenotype entries for this disease 5
Associated with 1 gene DDHD2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00081213 - - 4-generation family, 3 affecteds (2F, m), unaffected heterozygous carrier parents, patient WMD-1675-3-3 M yes - - - - - - SPG54 Strabismus (HP:0000486) Spasticity (HP:0001257) Dysarthria (HP:0001260) Abnormality of the cerebellum (HP:0001317) Astigmatism (HP:0000483) Urinary bladder sphincter dysfunction (HP:0002839) Periventricular leukomalacia (HP:0006970) Intellectual disability, moderate (HP:0002342) DDHD2 DDHD2 1 1 Karo Smeele
00095118 - PubMed: Novarino 2014, Journal: Novarino 2014 sister of WMD-1675-3-4 F yes - - - - added by student Iris van Schaik - SPG54 Signs at onset: tip-toe walking, Disability stage: can walk unsupported, Skeletal deformities: laterally deviated feet, Mild-moderate intellectual disability DDHD2 DDHD2 1 1 Johan den Dunnen
00095119 - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 4 affecteds (4F), unaffected heterozygous carrier parents, patient 1314-I-V-1 F yes - - - - added by student Iris van Schaik - SPG54 Spasticity (HP:0001257), Dysarthria (HP:0001260), Gait disturbance (HP:0001288), Abnormality of the cerebellum (HP:0001317), Strabismus (HP:0000486), Babinski sign (-HP:0003487), Impaired vibration sensation at ankles (HP:0006938), Urinary bladder sphincter dysfunction (HP:0002839), Periventricular leukomalacia (HP:0006970), Intellectual disability, moderate (HP:0002342) DDHD2 DDHD2 1 4 Johan den Dunnen
00276321 - - - F yes Turkey Turkish - - - - MPS3B, SPG54 HP:0001250 HP:0006834 HP:0031358 HP:0002240 HP:0001263 HP:0001249 HP:0000007 HP:0003676, HP:0001347 HP:0001263 HP:0001258 HP:0001249 HP:0000007 HP:0007340 HP:0003676 - CPT1A, DDHD2, NAGLU 3 2 Dilek Gün Bilgiç
00404103 - - - F yes Egypt - - - - - SPG54 26-y female with progressive weakness and spascticity of both lower limbs, slurred speech, pseudobulbar palsy, cognitive deterioration and bilateral pes cavus DDHD2 DDHD2 1 1 Sherifa Ahmed Hamed
00442604 ANMD03 - 2 patients - yes Pakistan - - - - - SPG54 - DDHD2 DDHD2 1 2 Sadaf Naz
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