Disease #04115

Official abbreviation HVDAS;MRD-28
Name syndrome, Helsmoortel-Van der Aa (HVDAS, mental retardation, autosomal dominant, type 28 (MRD-28))
OMIM ID 615873
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 38
Phenotype entries for this disease 7
Associated with 1 gene ADNP
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

38 entries on 1 page. Showing entries 1 - 38.
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00029826 - PubMed: Helsmoortel 2014 Patient 1 in the paper M no Belgium Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029827 - PubMed: Helsmoortel 2014 patient 2 in the paper F no Netherlands Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029828 - PubMed: Helsmoortel 2014 PubMed: O'Roak 2012 PubMed: O'Roak 2012 PubMed: O'Roak 2014 patient 3 in the paper F no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029829 - PubMed: Helsmoortel 2014 patient 4 in the paper M no Australia Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029830 - PubMed: Helsmoortel 2014 patient 5 in the paper M no Sweden Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029831 - PubMed: Helsmoortel 2014 patient 6 in the paper M no Belgium Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029832 - PubMed: Helsmoortel 2014 patient 7 in the paper F no Netherlands Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029833 - PubMed: Helsmoortel 2014 patient 8 in the paper M no Italy Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029835 - PubMed: Helsmoortel 2014 patien 9 in the paper F no Italy Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029836 - PubMed: Helsmoortel 2014 PubMed: O'Roak 2012 PubMed: O'Roak 2014 patient 10 in the paper M no United States Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029841 - PubMed: Pescosolido 2014 - F no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029842 - PubMed: Vandeweyer 2014 patient 11 in the paper M no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029843 - - - M no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029844 - - - M no Netherlands Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029845 - - - M - Netherlands Caucasian - 0 yes - HVDAS;MRD-28 - - - 0 1 Céline Helsmoortel
00029846 - - - ? no Serbia Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029847 - - - F no (United Kingdom (Great Britain)) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029848 - - - M no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029849 - - - F no Albania Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029850 - - - M no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029853 - PubMed: O'Roak 2014 - ? no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029854 - PubMed: O'Roak 2014 - ? no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00029855 - - - M no Netherlands Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00030137 - - - M no Netherlands Caucasian - 0 yes - HVDAS;MRD-28 - - - 0 1 Céline Helsmoortel
00030138 - - - F no (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00032351 - - - M no (Netherlands) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00034045 - - - M no United Kingdom (Great Britain) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00034046 - - - M no Israel - - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00034574 - - - F no - - - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00037582 - - - F no Ireland Caucasian - 0 - - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00038534 - - - F no Netherlands Caucasian - 0 - - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00038639 - - - F no Australia Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00038764 - - - M - Denmark Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00038765 - - - - - (United States) Caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00043759 - - - F - Norway caucasian - 0 yes - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00043760 - - - F - France Caucasian - 0 - - HVDAS;MRD-28 - ADNP ADNP 1 1 Céline Helsmoortel
00080956 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - HVDAS;MRD-28 Helsmoortel-van der Aa syndrome (OMIM:615873) ADNP ADNP 1 1 Daniel Trujillano
00134039 - - - M no France - 03y10m 0 - - HVDAS;MRD-28 hypotonia, recurrent respiratory tract infections, pervasive developmental disorder, intellectual disability, psychomotor delay: walk at 2 years, language delay, autistic traits, chronic constipation, facial dysmorphism: prominent forehead, high anterior hairline, hypertelorism, strabismus, wide palpebral fissures, small ears, broad nasal bridge, short nose, long/smooth philtrum, hyperlaxity of joints, ataxic gait. - ADNP 1 1 Minh Tuan Huynh
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