Rare Disease Library

Holoprosencephaly-caudal dysgenesis syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

Hydranencephaly

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Hydrocephalus-blue sclerae-nephropathy syndrome

Daentl-Townsend-Siegel syndrome

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome

Hydrocephalus-obesity-hypogonadism syndrome

Sengers-Hamel-Otten syndrome

Hydrocephaly-cerebellar agenesis syndrome

Hydrocephaly-low insertion umbilicus syndrome

Palmer-Pagon syndrome

Hydrocephaly-tall stature-joint laxity syndrome

Daish-Hardman-Lamont syndrome

Hyper-IgM syndrome with susceptibility to opportunistic infections

HIGM with susceptibility to opportunistic infections

Hyper-IgM syndrome without susceptibility to opportunistic infections

HIGM without susceptibility to opportunistic infections

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

CA-VA deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

Hypothyroidism due to TSH receptor mutations

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Immune dysregulation disease with immunodeficiency associated with EBV susceptibility

Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile epileptic-dyskinetic encephalopathy

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

Infectious encephalitis

Iniencephaly

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

Isolated anencephaly

Isolated anencephaly/exencephaly

Isolated arhinencephaly

Isolated congenital microcephaly

Isolated Dandy-Walker malformation with hydrocephalus

Isolated Dandy-Walker malformation without hydrocephalus

Isolated encephalocele

Isolated exencephaly

Isolated lissencephaly type 1 without known genetic defects

Isolated megalencephaly

Japanese encephalitis

KCNQ2-related developmental and epileptic encephalopathy

KCNQ2-DEE

La Crosse encephalitis

Californian encephalitis

Lethal hydranencephaly-diaphragmatic hernia syndrome