Rare Disease Library

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism syndrome

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

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

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

PHD syndrome · Polyvalvular heart disease syndrome

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Diaphragmatic hernia-short bowel-asplenia syndrome

Dincsoy-Salih-Patel syndrome

Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism 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-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Gingival fibromatosis-facial dysmorphism syndrome

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

ZNF148-related neurodevelopmental disorder

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 hydranencephaly-diaphragmatic hernia syndrome

Lethal multiple congenital anomalies/dysmorphic syndrome

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

Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome

Multiple congenital anomalies/dysmorphic syndrome

Night blindness-skeletal anomalies-dysmorphism syndrome

Hunter-Thompson-Reed syndrome

Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome

Gershoni-Baruch syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

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

Palatal anomalies-multiple diastemata-facial dysmorphism-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

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

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

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