Low-set ears, and Generalized seizures

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as ceroid lipofuscinosis, neuronal, cathepsin d-deficient, neuronal ceroid lipofuscinosis due to cathepsin d deficiency

• Autosomal recessive inheritance
• Seizures
• Microcephaly
• Ataxia
• Myopathy

SOURCES: ORPHANET OMIM

Medium match ADENYLOSUCCINASE DEFICIENCY; ADSLD

Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012).

ADENYLOSUCCINASE DEFICIENCY; ADSLD Is also known as adenylosuccinate lyase deficiency, adsl deficiency;adsl deficiency; adenylosuccinase deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: DOID UMLS MESH GARD ORPHANET SCTID OMIM MONDO

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: MESH MONDO OMIM DOID UMLS

Medium match HERMANSKY-PUDLAK SYNDROME 10; HPS10

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

• Autosomal recessive inheritance
• Seizures
• Generalized hypotonia
• Microcephaly
• Nystagmus

SOURCES: OMIM MONDO UMLS

Medium match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: OMIM UMLS MONDO

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 Is also known as mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: UMLS DOID OMIM MONDO

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: OMIM UMLS MONDO

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: DOID MONDO NCIT MESH UMLS OMIM

Medium match PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (OMIM ), caused by mutation in the HSD17B4 gene (OMIM ) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (see {601539}) (Watkins et al., 1995).

PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY Is also known as straight-chain acyl-coa oxidase deficiency, pseudoneonatal adrenoleukodystrophy;pseudo-nald; pseudo-neonatal adrenoleukodystrophy; pseudoadrenoleukodystrophy

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: UMLS DOID SCTID MESH MONDO OMIM GARD ORPHANET

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as mopd types i and iii; microcephalic osteodysplastic primordial dwarfism, taybi-linder type; primordial microcephalic dwarfism, crachami type; taybi-linder syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Micrognathia

SOURCES: ORPHANET