Tremor, and Heterotopia

Diseases related with Tremor and Heterotopia

In the following list you will find some of the most common rare diseases related to Tremor and Heterotopia that can help you solving undiagnosed cases.


Top matches:

Low match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

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Other less relevant matches:

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match LISSENCEPHALY 1; LIS1


Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic|ils|lissencephaly sequence, isolated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY 1; LIS1

Low match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Low match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Low match SPINOCEREBELLAR ATAXIA TYPE 2


Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Low match X-LINKED RETICULATE PIGMENTARY DISORDER


X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

Top 5 symptoms//phenotypes associated to Tremor and Heterotopia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Tremor and Heterotopia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dysarthria

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Ataxia Cognitive impairment Muscular hypotonia Microcephaly Hypoplasia of the corpus callosum Low-set ears Hypertelorism Spasticity Motor delay Cerebellar hypoplasia Gait ataxia Infantile spasms Ventriculomegaly Dystonia Lissencephaly Encephalopathy Abnormality of the cerebral white matter Dilatation Anteverted nares Hyperactivity Telecanthus Absent speech Feeding difficulties Tetraplegia Delayed speech and language development Intellectual disability, severe Acidosis Hearing impairment Short stature Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Areflexia Brachydactyly Coma Muscle cramps EEG abnormality Agenesis of cerebellar vermis Increased serum lactate Molar tooth sign on MRI Downslanted palpebral fissures Hypoplasia of the brainstem Tachypnea Hepatic fibrosis Pachygyria Open mouth Cerebellar vermis hypoplasia Renal cyst Wide nasal bridge Depressivity Spastic tetraparesis Mild global developmental delay Respiratory failure Depressed nasal bridge Abnormality of eye movement High forehead Myoclonus Febrile seizures Absence seizures Abnormal cortical gyration Metabolic acidosis Growth delay Abnormal corpus callosum morphology Cerebral cortical atrophy Polycystic kidney dysplasia Lethargy Abnormal cerebellum morphology Lactic acidosis Ketosis Downturned corners of mouth Frontal bossing Hyperammonemia Ptosis Intellectual disability, moderate Epicanthus Behavioral abnormality Global brain atrophy Hyporeflexia Polydactyly Macrocephaly Abnormality of the kidney Brain atrophy Short foot Micrognathia Aciduria Inability to walk Coloboma Glutaric aciduria Narcolepsy Cataplexy Progressive spastic quadriplegia Renal cortical cysts Rigidity Flexion contracture Limb tremor Impaired mastication Nonketotic hypoglycemia Abnormal cell morphology Personality disorder Hypoglycemic coma Gastrointestinal inflammation Ketotic hypoglycemia Arthralgia of the hip Hypersarcosinemia Abnormality of the substantia nigra Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Ethylmalonic aciduria Glutaric acidemia Abnormality of the spinocerebellar tracts Spinal cord posterior columns myelin loss Cerebellar Purkinje layer atrophy Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Oliguria Increased muscle lipid content Wide mouth Triangular face Generalized aminoaciduria Restrictive ventilatory defect Hydranencephaly Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Stuttering Difficulty climbing stairs Ventricular fibrillation Myoglobinuria Stridor Hemiplegia Back pain Slurred speech Easy fatigability Poor head control Mutism Ragged-red muscle fibers Drowsiness Cogwheel rigidity Respiratory arrest Hypoketotic hypoglycemia Acute pancreatitis Loss of ability to walk Muscular hypotonia of the trunk Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Short palpebral fissure Focal dystonia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Lower limb spasticity Progressive proximal muscle weakness Limb dystonia Olivopontocerebellar hypoplasia Periventricular leukomalacia Sepsis Deeply set eye Toe syndactyly Generalized tonic-clonic seizures Broad forehead Short philtrum Attention deficit hyperactivity disorder Autistic behavior Protruding ear Macrotia Iris coloboma Autism Upslanted palpebral fissure Short nose Apneic episodes precipitated by illness, fatigue, stress Basal ganglia cysts Chronic lactic acidosis Congenital lactic acidosis Decreased activity of the pyruvate dehydrogenase complex Thick eyebrow Everted lower lip vermilion Hyperalaninemia Plagiocephaly Large earlobe Abnormality of the periventricular white matter Poor eye contact Cupped ear Happy demeanor Tented upper lip vermilion Optic nerve hypoplasia Short chin Generalized myoclonic seizures Stereotypy Hemiclonic seizures Broad-based gait Frontal cortical atrophy Epileptic encephalopathy Periventricular white matter hyperdensities Convex nasal ridge Nystagmus Flared nostrils Dementia Focal-onset seizure Kinetic tremor Paralysis Abnormality of the nervous system Hyperactive deep tendon reflexes Slow saccadic eye movements Pneumonia Cerebral atrophy Long philtrum Type I lissencephaly Ophthalmoplegia Perivascular spaces Agyria Supranuclear ophthalmoplegia Progressive spasticity Abnormality of neuronal migration Abnormality of nervous system morphology Postnatal microcephaly Cerebral white matter atrophy Small for gestational age Spastic tetraplegia Parkinsonism Increased CSF lactate Progressive cerebellar ataxia Olivopontocerebellar atrophy Broad philtrum Severe lactic acidosis Episodic ataxia Chorea Fasciculations Breech presentation Short attention span Ophthalmoparesis Preeclampsia Mild microcephaly Hyperventilation Postural tremor Central hypotonia Partial agenesis of the corpus callosum Clumsiness Choreoathetosis Focal impaired awareness seizure Myalgia Pancreatitis Central apnea Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Abnormality of ocular smooth pursuit Meningoencephalocele Abnormal saccadic eye movements Abnormal pattern of respiration Breathing dysregulation Optic nerve coloboma Neonatal breathing dysregulation Impaired smooth pursuit Retinal dysplasia Self-mutilation Protruding tongue Occipital encephalocele Chorioretinal coloboma Oculomotor apraxia Encephalocele Brainstem dysplasia Enlarged fossa interpeduncularis Narrow forehead Clinodactyly Oral cleft Facial asymmetry Carious teeth Sparse hair Cleft lip Proteinuria Alopecia Abnormal heart morphology Syndactyly Hemifacial spasm Renal insufficiency Abnormality of the dentition Hydrocephalus Hypertension High palate Cleft palate Triangular-shaped open mouth Occipital myelomeningocele Apraxia Postaxial hand polydactyly Postaxial polydactyly Sensorineural hearing impairment Hirsutism Short palm Dysmetria Abnormal pyramidal sign Coarse facial features Micropenis Kyphosis Cerebellar atrophy Poor coordination Intention tremor Hepatocellular carcinoma Asthma Bruising susceptibility Carcinoma Abnormality of metabolism/homeostasis Intellectual disability, mild Talipes equinovarus Hyperreflexia Small hand Truncal ataxia Dandy-Walker malformation Abnormality of the eye Macroglossia Highly arched eyebrow Retinal dystrophy Long face Abnormality of skin pigmentation Abnormality of the foot Prominent nasal bridge Apnea Aggressive behavior Intellectual disability, progressive Mandibular prognathia Prominent forehead Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate nucleus Abnormality of the neck Thoracic kyphosis Thoracic scoliosis Cortical dysplasia Dysdiadochokinesis Stage 5 chronic kidney disease Bifid uvula Scapular winging Hypoglycemia Dilated cardiomyopathy Abnormality of the liver Respiratory tract infection Abnormality of the pinna Hyperlordosis Hypertrophic cardiomyopathy Proximal muscle weakness Elevated hepatic transaminase Difficulty walking Nausea and vomiting Jaundice Arthralgia Dyspnea Weight loss Elevated serum creatine phosphokinase Arrhythmia Headache Congestive heart failure Congenital cataract Limb muscle weakness Vomiting Left ventricular hypertrophy Exercise intolerance Type I diabetes mellitus Cardiac arrest Clonus Leukodystrophy Decreased liver function Wide anterior fontanel Anorexia Renal dysplasia Joint hyperflexibility Abnormality of the genital system Tetraparesis Cardiomegaly Waddling gait Gliosis Generalized muscle weakness Hepatic steatosis Pulmonary hypoplasia Nausea Diarrhea Myopathy Underdeveloped nasal alae Median cleft lip Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Bifid tongue Myelomeningocele Arachnoid cyst Increased number of teeth Deviation of finger Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Milia Radial deviation of finger Cutaneous syndactyly Microretrognathia Hypoplasia of dental enamel Pancreatic cysts Narrow naris Edema Cataract Cardiomyopathy Respiratory distress Respiratory insufficiency Dysphagia Fatigue Gait disturbance Fever Hepatomegaly Pain Lobulated tongue Muscle weakness Failure to thrive Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Grasp reflex



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