Rare Disease Library

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

HNRNPH2-Related Neurodevelopmental Disorder

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

GPAA1-related biosynthesis defect

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

Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome

SLC4A10-related neurodevelopmental disorder

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

Kaya-Barakat-Masson syndrome · KABAMAS

NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

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

OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

OBSOLETE: Microcephaly-seizures-developmental delay syndrome

OBSOLETE: MCSZ

OBSOLETE: Non-syndromic developmental defect of the eye

OBSOLETE: Syndromic developmental defect of the eye

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Okur-Chung neurodevelopmental syndrome

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

Ossification anomalies-psychomotor developmental delay syndrome

Osteosclerosis-developmental delay-craniosynostosis syndrome

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

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

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

Pili torti-developmental delay-neurological abnormalities syndrome

PLAA-associated neurodevelopmental disorder

PLAAND

Poirier-Bienvenu neurodevelopmental syndrome

Primary bone dysplasia with disorganized development of skeletal components

Primary osteodysplasia with disorganized development of skeletal components · Primary skeletal dysplasia with disorganized development of skeletal components

Primary congenital hypothyroidism without thyroid developmental anomaly

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

Pyridoxine-dependent-developmental and epileptic encephalopathy

Antiquitin deficiency · Vitamin B6-dependent seizures

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

Rare bone development disorder

Rare skeletal development disorder

Rare developmental defect during embryogenesis

Malformation syndrome

Rare developmental defect with connective tissue involvement

Rare developmental defect with skin/mucosae involvement

Rare genetic bone development disorder

Rare genetic skeletal development disorder

Rare genetic developmental defect during embryogenesis

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

RERE-related neurodevelopmental syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU 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

Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

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

TM2D3-related neurodevelopmental disorder

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

Short stature-brachydactyly-obesity-global developmental delay syndrome

SBIDDS