Rare Disease Library

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

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

NR4A2-related neurodevelopmental syndrome

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Difference of sex development

DSD · Disorder of sex development

Difference of sex development of gynecological interest

DSD of gynecological interest · Disorder of sex development of gynecological interest

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Diffuse leptomeningeal melanocytosis

DLM · Leptomeningeal melanomatosis

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

Disorder with multisystemic involvement and glomerulopathy

Disorder with multisystemic involvement and primary lymphedema

Distal myopathy with early respiratory muscle involvement

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Dysostosis with predominant craniofacial involvement

Dysostosis with predominant vertebral and costal involvement

Dyssegmental dysplasia-glaucoma syndrome

Dyssegmental dysplasia, Rolland-Desbuquois type

Dyssegmental dysplasia, Silverman-Handmaker type

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Early-onset obesity-hyperphagia-severe developmental delay syndrome

OBHD

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

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

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Eisenmenger syndrome

Epidermolysis bullosa simplex with extracutaneous involvement

EBS with extracutaneous involvement

Epidermolysis bullosa simplex with mottled pigmentation

EBS-MP · EBS with mottled pigmentation

Epidermolysis bullosa simplex without extracutaneous involvement

EBS without extracutaneous involvement

Epithelial basement membrane dystrophy

Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan 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-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

Familial developmental dysphasia

Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia

Familial episodic pain syndrome with predominantly lower limb involvement

Familial episodic pain syndrome with predominantly upper body involvement

Familial multiple meningioma

Familial progressive hyper- and hypopigmentation

FPHH

Familial progressive hyperpigmentation

Melanosis diffusa congenita · Melanosis universalis hereditaria

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Fetal encasement syndrome