Disease #00275 (MOPD-2 (dwarfism, primordial, osteodysplastic, microcephalic type II (MOPD-2)), OMIM:210720)

Official abbreviation MOPD-2
Name dwarfism, primordial, osteodysplastic, microcephalic type II (MOPD-2)
OMIM ID 210720
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 9
Associated with 1 gene PCNT
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00004045 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - M yes Saudi Arabia Arab - 0 - - MOPD-2 preterm, IUGR, delayed motor and speech development, high-pitched voice and recurrent chest infections PCNT PCNT 1 1 Fowzan Alkuraya
00080951 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - MOPD-2 Microcephalic osteodysplastic primordial dwarfism, type II (OMIM:210720) PCNT PCNT 1 1 Daniel Trujillano
00114690 - PubMed: Willems 2009 Cafe au lait spots. Moyamoya disease complicated with rupture of CNS vessels. M - Algeria - - 0 - - MOPD-2 Mild intellectual disability PCNT PCNT 1 1 Emmelien Aten
00114691 - PubMed: Willems 2009 Poor sucking.Vomiting. Hyperlaxity. Horseshoe kidney.Hypertonia. Subglottic stenosis. Recurrent upper respiratory tract infections. Micropenis High squeaky, nasal voice M - Turkey - - 0 - - MOPD-2 Mild intellectual disability PCNT PCNT 1 1 Emmelien Aten
00114693 - PubMed: Willems 2009 - F - Morocco - - 0 - - MOPD-2 - PCNT PCNT 1 1 Emmelien Aten
00114695 - PubMed: Willems 2009 Micropenis. Cafe au lait spots. Livedo reticularis. Cirrhosis. High squeaky, nasal voice M - Italy - - 0 - - MOPD-2 - PCNT PCNT 1 1 Emmelien Aten
00114698 - PubMed: Willems 2009 Anemia. Body asymmetry Radial head dislocation M - France - - 0 - - MOPD-2 - PCNT PCNT 1 1 Emmelien Aten
00114700 - PubMed: Willems 2009 Hypertonia. Micropenis. ? - Morocco - - 0 - - MOPD-2 Severe intellectual disability PCNT PCNT 1 1 Emmelien Aten
00114701 - PubMed: Willems 2009 High squeaky voice. Cafe au lait spots. F - Morocco - - 0 - - MOPD-2 - PCNT PCNT 1 1 Emmelien Aten
00114702 - PubMed: Willems 2009 Poïkilodermia. Atrial septal defect. M - Sri Lanka - - 0 - - MOPD-2 - PCNT PCNT 1 1 Emmelien Aten
Legend   How to query