Rare Disease Library

Cat-eye syndrome

CES

Cat-scratch disease

Bartonellosis due to Bartonella henselae infection

Cataract-aberrant oral frenula-growth delay syndrome

Wellesley-Carman-French syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

Cataract-congenital heart disease-neural tube defect syndrome

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

CAGSSS

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cataract-microcornea syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

Catecholaminergic polymorphic ventricular tachycardia

Polymorphic ventricular tachycardia induced by catecholamines · CPVT

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

Common arterial trunk

CAT · Truncus arteriosus

22q11.2 deletion syndrome

22q11DS · CATCH 22

Acatalasemia

Catalase deficiency

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-deafness syndrome · CATSHL syndrome

Enlarged parietal foramina

Catlin marks · Fenestrae parietales symmetricae

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

10q22.3q23.3 microduplication syndrome

Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

16p11.2p12.2 microduplication syndrome

Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2

16p12.1p12.3 triplication syndrome

Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3)

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

19p13.3 microduplication syndrome

Dup(19)(p13.3)

1p36.33 duplication syndrome

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

20q11.2 microduplication syndrome

Dup(20)(q11.2)

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

MGA7 · 3-methylglutaconic aciduria type 7

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26