Rare Disease Intelligence

Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 8 more sources. Updated daily.

10,888+ diseases

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Showing 10,761-10,780 of 10,888 diseases

microcephaly 13, primary, autosomal recessive

MONDO:0014473

Rare

CENPE

microcephaly 14, primary, autosomal recessive

MONDO:0014623

Rare

Microcephaly 14, primary, autosomal recessive is an inherited neurological condition characterized by a significantly reduced head size and associated...

SASS6

microcephaly 15, primary, autosomal recessive

MONDO:0014660

Rare

MFSD2A

microcephaly 16, primary, autosomal recessive

MONDO:0014730

Rare

ANKLE2

microcephaly 17, primary, autosomal recessive

MONDO:0014908

Rare

CIT

microcephaly 18, primary, autosomal dominant

MONDO:0054593

Rare

WDFY3

microcephaly 19, primary, autosomal recessive

MONDO:0054716

Rare

COPB2

microcephaly 2, primary, autosomal recessive, with or without cortical malformations

MONDO:0011435

Rare

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations is a neurodevelopmental condition characterized by an abnormally...

WDR62

microcephaly 20, primary, autosomal recessive

MONDO:0054761

Rare

KIF14

microcephaly 21, primary, autosomal recessive

MONDO:0054804

Rare

NCAPD2

microcephaly 22, primary, autosomal recessive

MONDO:0054805

Rare

NCAPD3

microcephaly 23, primary, autosomal recessive

MONDO:0054806

Rare

NCAPH

microcephaly 24, primary, autosomal recessive

MONDO:0032583

Rare

NUP37

microcephaly 25, primary, autosomal recessive

MONDO:0032694

Rare

TRAPPC14

microcephaly 26, primary, autosomal dominant

MONDO:0030928

Rare

LMNB1

microcephaly 27, primary, autosomal dominant

MONDO:0030929

Rare

LMNB2

microcephaly 28, primary, autosomal recessive

MONDO:0030339

Rare

RRP7A

microcephaly 29, primary, autosomal recessive

MONDO:0031060

Rare

PDCD6IP

microcephaly 3, primary, autosomal recessive

MONDO:0011488

Rare

Microcephaly 3, primary, autosomal recessive is a neurodevelopmental condition caused by mutations in the CDK5RAP2 gene. It is characterized by a sign...

CDK5RAP2

microcephaly 30, primary, autosomal recessive

MONDO:0859342

Rare

BUB1

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