Rare Disease Library

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-congenital heart disease-neural tube defect syndrome

Cataract-deafness-hypogonadism syndrome

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

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable deafness syndrome · Congenital hereditary facial palsy with variable deafness

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Early-onset obesity-hyperphagia-severe developmental delay syndrome

OBHD

Hypomyelination-congenital cataract syndrome

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Macrocephaly-developmental delay syndrome

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

PRR12-related neuroocular syndrome

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

OBSOLETE: Congenital cataract-ichthyosis syndrome

OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

SADDAN

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome