All individuals with variants in gene DDHD2

14 entries on 1 page. Showing entries 1 - 14.
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00050711 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? specific learning disability, delayed speech and language development, delayed speech and language development, upper motor neuron abnormality, strabismus, bilateral conductive hearing impairment, dysdiadochokinesis 2 2 Johan den Dunnen
00050712 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? upper motor neuron abnormality, delayed speech and language development, delayed speech and language development, specific learning disability, strabismus, dysdiadochokinesis 2 2 Johan den Dunnen
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) 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 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) 1 4 Johan den Dunnen
00164642 24123876-FamW10-1338 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, affected sister/brother, unaffected carrier parents F;M no Netherlands - - - - - ID see paper; ... 2 2 Johan den Dunnen
00225673 13DG0583 PubMed: Alazami 2015, Journal: Alazami 2015, PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - ? see paper; …, syndromic; global developmental delay, Joubert syndrome MRI findings, isolated cerebellar atrophy 1 1 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 1 2 Dilek Gün Bilgiç
00307940 16DG0325 PubMed: Anazi 2017 simplex case M - - - - - - - ID see paper; ..., Global developmental delay, Neonatal hypotonia, Feeding Difficulties, Hypocortisolemia, Seizures; Hypertonia, Hyperreflexia, Hypothyroidism 1 1 Johan den Dunnen
00361621 14DG0478 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; intellectual disability, spastic paraplegia 1 1 Johan den Dunnen
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 1 1 Sherifa Ahmed Hamed
00442604 ANMD03 - 2 patients - yes Pakistan - - - - - SPG54 - 1 2 Sadaf Naz
00453032 Fam9 Journal: Paracha 2024 2-generation family, 1 affected, heterozygous carrier parents/relatives M yes Pakistan - - - - - NDD delayed psychomotor development, delayed intellectual development, early onset rigidity lower limbs due to hypertonia 1 1 Muhammad Umair
00455822 Pat62 PubMed: Salinas 2020 patient M - - - - - - - ? - 2 1 Johan den Dunnen
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