Rare Disease Library

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies · BPTF-related NEDDFL

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

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

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

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ERF-related syndromic craniosynostosis

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Desanto-Shinawi syndrome due to WAC point mutation

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Genetic lethal multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

TMEM147-related neurodevelopmental disorder

Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome

ZNF148-related neurodevelopmental disorder

ICHAD syndrome

Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-facial dysmorphism-hand anomalies syndrome

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Lethal multiple congenital anomalies/dysmorphic syndrome

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

PRR12-related neuroocular syndrome

Multiple congenital anomalies/dysmorphic syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MCA/MR · Multiple congenital anomalies-intellectual disability with or without dysmorphism

Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome

HNRNPR-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Ossification anomalies-psychomotor developmental delay syndrome

Pierpont syndrome

Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

TM2D3-related neurodevelopmental disorder

Takenouchi-Kosaki syndrome

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Beaulieu-Boycott-Innes syndrome · BBIS

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

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

DESSH · Desanto-Shinawi syndrome