Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/210600
http://purl.bioontology.org/ontology/OMIM/210600
Preferred Name

SECKEL SYNDROME 1
Synonyms
BIRD-HEADED DWARFISM
SCKL1
SCKL
NANOCEPHALIC DWARFISM
SECKEL-TYPE DWARFISM
MICROCEPHALIC PRIMORDIAL DWARFISM I
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BIRD-HEADED DWARFISM
SCKL1
SCKL
NANOCEPHALIC DWARFISM
SECKEL-TYPE DWARFISM
MICROCEPHALIC PRIMORDIAL DWARFISM I
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prefLabel
SECKEL SYNDROME 1
Gene Symbol
FRP1
FCTCS
SCKL1
ATR
Scope Statement
Other half show head circumference more retarded than height [MISCELLANEOUS]
Half of cases show retarded head circumference equal to height retardation [MISCELLANEOUS]
Caused by mutation in the ATR serine/threonine kinase gene (ATR, 601215.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU014178
http://purl.bioontology.org/ontology/OMIM/MTHU014189
http://purl.bioontology.org/ontology/OMIM/MTHU007225
http://purl.bioontology.org/ontology/OMIM/MTHU045320
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU011732
http://purl.bioontology.org/ontology/OMIM/MTHU000504
http://purl.bioontology.org/ontology/OMIM/MTHU014190
http://purl.bioontology.org/ontology/OMIM/MTHU002993
http://purl.bioontology.org/ontology/OMIM/MTHU036336
http://purl.bioontology.org/ontology/OMIM/MTHU010516
http://purl.bioontology.org/ontology/OMIM/MTHU000581
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU000848
http://purl.bioontology.org/ontology/OMIM/MTHU014188
http://purl.bioontology.org/ontology/OMIM/MTHU014183
http://purl.bioontology.org/ontology/OMIM/MTHU020345
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU014181
http://purl.bioontology.org/ontology/OMIM/MTHU005299
http://purl.bioontology.org/ontology/OMIM/MTHU014179
http://purl.bioontology.org/ontology/OMIM/MTHU014164
http://purl.bioontology.org/ontology/OMIM/MTHU014177
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU014186
http://purl.bioontology.org/ontology/OMIM/MTHU003865
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU001789
http://purl.bioontology.org/ontology/OMIM/MTHU036361
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU000090
http://purl.bioontology.org/ontology/OMIM/MTHU000554
http://purl.bioontology.org/ontology/OMIM/MTHU014185
http://purl.bioontology.org/ontology/OMIM/MTHU014182
http://purl.bioontology.org/ontology/OMIM/MTHU007037
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU000574
http://purl.bioontology.org/ontology/OMIM/MTHU014180
http://purl.bioontology.org/ontology/OMIM/MTHU036440
http://purl.bioontology.org/ontology/OMIM/MTHU014184
http://purl.bioontology.org/ontology/OMIM/MTHU014191
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU004600
http://purl.bioontology.org/ontology/OMIM/MTHU036683
http://purl.bioontology.org/ontology/OMIM/MTHU001437
http://purl.bioontology.org/ontology/OMIM/MTHU014187
http://purl.bioontology.org/ontology/OMIM/MTHU002075
http://purl.bioontology.org/ontology/OMIM/MTHU010339
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
3q22-q24
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
210600
Semantic type UMLS property
Has inheritance type
cui
C4551474
Moved from
608664
OMIM Entry Type
3
OMIM MimType Value
pound
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