Rare Disease Library

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

2q13 microdeletion syndrome

del2q13 syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Acropectorovertebral dysplasia

F syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-deafness-hypogonadism syndrome

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

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Caudal appendage-deafness syndrome

Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Deafness-vitiligo-achalasia syndrome

Hearing loss-vitiligo-achalasia syndrome

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome