microcephalic osteodysplastic primordial dwarfism type I
sameAs
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies.Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type IExpanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
P921
Q33597789-3A92A6B4-E838-45C3-9FBF-C633C4020728Q34687471-EE1CA4C6-1E75-4AC0-A19A-FBB9731352AAQ37277264-CFCB35B2-5516-410E-86D3-6FE8EC7BC962Q38690947-92778F95-BD8C-42FD-B09E-BDF834A8B322Q53327419-998BACB8-C918-492F-90BA-C44A378068A4Q55054998-46CA9FDC-B30D-4EA0-A65A-E0EB6FA6BEC4Q57206938-4FEF916E-571E-43FA-A278-3BF89C33FF8EQ57206987-DE7BB350-5927-49BB-BA6D-75D2FF8C1423
P921
microcephalic osteodysplastic primordial dwarfism type I
description
Human disease
@en
Krankheit
@de
مرض يصيب الإنسان
@ar
name
Nanisme microcéphalique ostéodysplasique primordial type 1
@fr
Taybi-Linder-Syndrom
@de
microcephalic osteodysplastic primordial dwarfism type I
@en
type
label
Nanisme microcéphalique ostéodysplasique primordial type 1
@fr
Taybi-Linder-Syndrom
@de
microcephalic osteodysplastic primordial dwarfism type I
@en
altLabel
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
@en
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
@en
MOPD1
@en
Mopd 1
@en
Osteodysplastic Primordial Dwarfism, Type 1
@en
Taybi-Linder syndrome
@en
brachymelic primordial dwarfism
@en
cephaloskeletal dysplasia
@en
low-birth-weight dwarfism with skeletal dysplasia
@en
osteodysplastic primordial dwarfism type I
@en
prefLabel
Nanisme microcéphalique ostéodysplasique primordial type 1
@fr
Taybi-Linder-Syndrom
@de
microcephalic osteodysplastic primordial dwarfism type I
@en
P279
P1995
P2892
P4229
P492
P5270
MONDO:0008871
P699
DOID:0060608