Rare Disease Library

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Atypical hypotonia-cystinuria syndrome

Atypical HCS

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Congenital cataract-hearing loss-severe developmental delay syndrome

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

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

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

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

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-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Early-onset obesity-hyperphagia-severe developmental delay syndrome

OBHD

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Global developmental delay-osteopenia-ectodermal defect syndrome

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Ataxia-delayed dentition-hypomyelination syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

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

Macrocephaly-developmental delay syndrome

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

Marbach-Schaaf neurodevelopmental syndrome

Global developmental delay-hypotonia-high pain tolerance syndrome · MASNS

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Ossification anomalies-psychomotor developmental delay syndrome

Osteosclerosis-developmental delay-craniosynostosis syndrome

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

RERE-related neurodevelopmental 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

Transketolase deficiency

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

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome