Delayed speech and language development, and Hypertonia

Low match PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Is also known as ;

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly

SOURCES: UMLS MONDO ORPHANET OMIM SCTID DOID

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

, Xp22.13).

• Intellectual disability
• Spasticity
• Hypertonia
• Rigidity
• Status epilepticus

SOURCES: ORPHANET

Low match CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by Schulze, 2003).For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (OMIM ).

CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 Is also known as guanidinoacetate methyltransferase deficiency, gamt deficiency, creatine deficiency syndrome due to gamt deficiency;gamt deficiency

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

SOURCES: ORPHANET MONDO GARD DOID MESH SCTID OMIM UMLS

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37 Is also known as ;

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Generalized hypotonia
• Spasticity

SOURCES: OMIM MONDO UMLS ORPHANET

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: MONDO GARD OMIM UMLS

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4 Is also known as ;

• Autosomal recessive inheritance
• Spasticity
• Optic atrophy
• Absent speech
• Leukodystrophy

SOURCES: OMIM MONDO ORPHANET UMLS DOID

Low match STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC Is also known as lenk-ploski syndrome;lenk-ploski syndrome

• Autosomal recessive inheritance
• Delayed speech and language development
• Hyperreflexia
• Dysphagia
• Hypertonia

SOURCES: ORPHANET OMIM UMLS MONDO

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

• Autosomal recessive inheritance
• Ataxia
• Growth delay
• Nystagmus
• Cataract

SOURCES: UMLS MONDO OMIM

Low match HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

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

SOURCES: ORPHANET OMIM UMLS MONDO

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

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

SOURCES: MONDO UMLS OMIM